Linked Data
dbSNP Id:
rs972324175
gnomAD v2:
1-216716342-G-T
gnomAD v3:
1-216543000-G-T
gnomAD v4:
1-216543000-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216543000G>T , CM000663.2:g.216543000G>T | GRCh38 |
| NC_000001.10:g.216716342G>T , CM000663.1:g.216716342G>T | GRCh37 |
| NC_000001.9:g.214782965G>T | NCBI36 |
| NG_029784.1:g.599756C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408911.8:c.862+21219C>A MANE Select | ENSP00000386171.3:n.862+21219C>A | |
| ENST00000673908.1:c.814+21219C>A | ENSP00000500992.1:n.814+21219C>A | |
| ENST00000359162.6:c.793+21219C>A | ENSP00000352077.2:n.793+21219C>A | |
| ENST00000360012.7:c.793+21219C>A | ENSP00000353108.3:n.793+21219C>A | |
| ENST00000361395.6:c.793+21219C>A | ENSP00000354584.2:n.793+21219C>A | |
| ENST00000361525.7:c.793+21219C>A | ENSP00000355225.3:n.793+21219C>A | |
| ENST00000366937.5:c.898+21219C>A | ENSP00000355904.1:n.898+21219C>A | |
| ENST00000366938.6:c.793+21219C>A | ENSP00000355905.2:n.793+21219C>A | |
| ENST00000366940.6:c.793+21219C>A | ENSP00000355907.2:n.793+21219C>A | |
| ENST00000391890.7:c.793+21219C>A | ENSP00000375761.4:n.793+21219C>A | |
| ENST00000408911.7:c.862+21219C>A | ENSP00000386171.3:n.862+21219C>A | |
| ENST00000463665.5:c.676+21219C>A | ENSP00000418629.1:n.676+21219C>A | |
| ENST00000475275.5:c.793+21219C>A | ENSP00000419514.1:n.793+21219C>A | |
| ENST00000487276.5:c.793+21219C>A | ENSP00000419155.1:n.793+21219C>A | |
| ENST00000493603.5:c.793+21219C>A | ENSP00000419594.1:n.793+21219C>A | |
| ENST00000493748.5:c.793+21219C>A | ENSP00000417374.1:n.793+21219C>A | |
| ENST00000616180.4:c.793+21219C>A | ENSP00000481528.1:n.793+21219C>A | |
| NM_001134285.2:c.793+21219C>A | NP_001127757.1:n.793+21219C>A | |
| NM_001243505.1:c.109+21219C>A | NP_001230434.1:n.109+21219C>A | |
| NM_001243506.1:c.307+21219C>A | NP_001230435.1:n.307+21219C>A | |
| NM_001243507.1:c.676+21219C>A | NP_001230436.1:n.676+21219C>A | |
| NM_001243509.1:c.793+21219C>A | NP_001230438.1:n.793+21219C>A | |
| NM_001243510.2:c.793+21219C>A | NP_001230439.1:n.793+21219C>A | |
| NM_001243511.2:c.793+21219C>A | NP_001230440.1:n.793+21219C>A | |
| NM_001243512.1:c.793+21219C>A | NP_001230441.1:n.793+21219C>A | |
| NM_001243513.1:c.793+21219C>A | NP_001230442.1:n.793+21219C>A | |
| NM_001243514.1:c.793+21219C>A | NP_001230443.1:n.793+21219C>A | |
| NM_001243515.1:c.793+21219C>A | NP_001230444.1:n.793+21219C>A | |
| NM_001243518.1:c.898+21219C>A | NP_001230447.1:n.898+21219C>A | |
| NM_001243519.1:c.793+21219C>A | NP_001230448.1:n.793+21219C>A | |
| NM_001438.3:c.862+21219C>A | NP_001429.2:n.862+21219C>A | |
| NM_206594.2:c.793+21219C>A | NP_996317.1:n.793+21219C>A | |
| NM_206595.2:c.793+21219C>A | NP_996318.1:n.793+21219C>A | |
| XM_006711205.1:c.793+21219C>A | XP_006711268.1:n.793+21219C>A | |
| XM_011509265.1:c.919+21219C>A | XP_011507567.1:n.919+21219C>A | |
| XM_011509266.1:c.898+21219C>A | XP_011507568.1:n.898+21219C>A | |
| XM_011509267.1:c.898+21219C>A | XP_011507569.1:n.898+21219C>A | |
| XM_011509268.1:c.898+21219C>A | XP_011507570.1:n.898+21219C>A | |
| XM_011509269.1:c.898+21219C>A | XP_011507571.1:n.898+21219C>A | |
| XM_011509270.1:c.883+21219C>A | XP_011507572.1:n.883+21219C>A | |
| XM_011509271.1:c.829+21219C>A | XP_011507573.1:n.829+21219C>A | |
| XM_011509272.1:c.829+21219C>A | XP_011507574.1:n.829+21219C>A | |
| XM_011509273.1:c.814+21219C>A | XP_011507575.1:n.814+21219C>A | |
| XM_011509274.1:c.814+21219C>A | XP_011507576.1:n.814+21219C>A | |
| XM_011509275.1:c.814+21219C>A | XP_011507577.1:n.814+21219C>A | |
| XM_011509276.1:c.814+21219C>A | XP_011507578.1:n.814+21219C>A | |
| XM_011509277.1:c.814+21219C>A | XP_011507579.1:n.814+21219C>A | |
| XM_011509278.1:c.814+21219C>A | XP_011507580.1:n.814+21219C>A | |
| XM_011509279.1:c.814+21219C>A | XP_011507581.1:n.814+21219C>A | |
| XM_011509280.1:c.814+21219C>A | XP_011507582.1:n.814+21219C>A | |
| XM_011509281.1:c.814+21219C>A | XP_011507583.1:n.814+21219C>A | |
| XM_011509282.1:c.814+21219C>A | XP_011507584.1:n.814+21219C>A | |
| NM_001350122.1:c.793+21219C>A | NP_001337051.1:n.793+21219C>A | |
| NM_001350123.1:c.793+21219C>A | NP_001337052.1:n.793+21219C>A | |
| NM_001350124.1:c.793+21219C>A | NP_001337053.1:n.793+21219C>A | |
| NM_001350125.1:c.793+21219C>A | NP_001337054.1:n.793+21219C>A | |
| XM_011509265.3:c.919+21219C>A | XP_011507567.1:n.919+21219C>A | |
| XM_011509266.3:c.898+21219C>A | XP_011507568.1:n.898+21219C>A | |
| XM_011509268.2:c.898+21219C>A | XP_011507570.1:n.898+21219C>A | |
| XM_011509269.2:c.898+21219C>A | XP_011507571.1:n.898+21219C>A | |
| XM_011509271.2:c.829+21219C>A | XP_011507573.1:n.829+21219C>A | |
| XM_011509280.2:c.814+21219C>A | XP_011507582.1:n.814+21219C>A | |
| XM_017000621.2:c.919+21219C>A | XP_016856110.1:n.919+21219C>A | |
| XM_017000622.1:c.919+21219C>A | XP_016856111.1:n.919+21219C>A | |
| XM_017000623.2:c.919+21219C>A | XP_016856112.1:n.919+21219C>A | |
| XM_017000624.2:c.919+21219C>A | XP_016856113.1:n.919+21219C>A | |
| XM_017000625.1:c.919+21219C>A | XP_016856114.1:n.919+21219C>A | |
| XM_017000626.1:c.877+21219C>A | XP_016856115.1:n.877+21219C>A | |
| XM_017000627.1:c.877+21219C>A | XP_016856116.1:n.877+21219C>A | |
| XM_017000628.1:c.871+21219C>A | XP_016856117.1:n.871+21219C>A | |
| XM_017000630.1:c.829+21219C>A | XP_016856119.1:n.829+21219C>A | |
| XM_017000631.2:c.814+21219C>A | XP_016856120.1:n.814+21219C>A | |
| XM_017000632.2:c.814+21219C>A | XP_016856121.1:n.814+21219C>A | |
| XM_017000633.1:c.814+21219C>A | XP_016856122.1:n.814+21219C>A | |
| XM_017000634.2:c.814+21219C>A | XP_016856123.1:n.814+21219C>A | |
| XM_017000635.1:c.814+21219C>A | XP_016856124.1:n.814+21219C>A | |
| XM_017000636.2:c.814+21219C>A | XP_016856125.1:n.814+21219C>A | |
| XM_017000637.1:c.814+21219C>A | XP_016856126.1:n.814+21219C>A | |
| XM_017000638.2:c.793+21219C>A | XP_016856127.1:n.793+21219C>A | |
| XM_017000639.1:c.793+21219C>A | XP_016856128.1:n.793+21219C>A | |
| XM_017000641.1:c.793+21219C>A | XP_016856130.1:n.793+21219C>A | |
| XM_017000644.1:c.793+21219C>A | XP_016856133.1:n.793+21219C>A | |
| XM_017000645.1:c.793+21219C>A | XP_016856134.1:n.793+21219C>A | |
| XM_024453959.1:c.814+21219C>A | XP_024309727.1:n.814+21219C>A | |
| XM_024453960.1:c.814+21219C>A | XP_024309728.1:n.814+21219C>A | |
| XM_024453975.1:c.793+21219C>A | XP_024309743.1:n.793+21219C>A | |
| XM_024453979.1:c.793+21219C>A | XP_024309747.1:n.793+21219C>A | |
| XM_024453980.1:c.793+21219C>A | XP_024309748.1:n.793+21219C>A | |
| NM_001438.4:c.862+21219C>A MANE Select | NP_001429.2:n.862+21219C>A | |
| NM_001134285.3:c.793+21219C>A | NP_001127757.1:n.793+21219C>A | |
| NM_001243505.2:c.109+21219C>A | NP_001230434.1:n.109+21219C>A | |
| NM_001243506.2:c.307+21219C>A | NP_001230435.1:n.307+21219C>A | |
| NM_001243507.2:c.676+21219C>A | NP_001230436.1:n.676+21219C>A | |
| NM_001243509.2:c.793+21219C>A | NP_001230438.1:n.793+21219C>A | |
| NM_001243510.3:c.793+21219C>A | NP_001230439.1:n.793+21219C>A | |
| NM_001243511.3:c.793+21219C>A | NP_001230440.1:n.793+21219C>A | |
| NM_001243514.2:c.793+21219C>A | NP_001230443.1:n.793+21219C>A | |
| NM_001243515.2:c.793+21219C>A | NP_001230444.1:n.793+21219C>A | |
| NM_001243518.2:c.898+21219C>A | NP_001230447.1:n.898+21219C>A | |
| NM_001350122.2:c.793+21219C>A | NP_001337051.1:n.793+21219C>A | |
| NM_001350123.2:c.793+21219C>A | NP_001337052.1:n.793+21219C>A | |
| NM_001350124.2:c.793+21219C>A | NP_001337053.1:n.793+21219C>A | |
| NM_001350125.2:c.793+21219C>A | NP_001337054.1:n.793+21219C>A | |
| NM_206595.3:c.793+21219C>A | NP_996318.1:n.793+21219C>A | |
| NM_001243519.2:c.793+21219C>A | NP_001230448.1:n.793+21219C>A | |
| NM_206594.3:c.793+21219C>A | NP_996317.1:n.793+21219C>A |