Linked Data
dbSNP Id:
rs1339219
gnomAD v2:
1-217172392-C-A
gnomAD v3:
1-216999050-C-A
gnomAD v4:
1-216999050-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216999050C>A , CM000663.2:g.216999050C>A | GRCh38 |
| NC_000001.10:g.217172392C>A , CM000663.1:g.217172392C>A | GRCh37 |
| NC_000001.9:g.215239015C>A | NCBI36 |
| NG_029784.1:g.143706G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673908.1:c.-105-59377G>T | ENSP00000500992.1:n.-105-59377G>T | |
| ENST00000359162.6:c.-105-59377G>T | ENSP00000352077.2:n.-105-59377G>T | |
| ENST00000361525.7:c.-223-59377G>T | ENSP00000355225.3:n.-223-59377G>T | |
| ENST00000366940.6:c.-229-39365G>T | ENSP00000355907.2:n.-229-39365G>T | |
| ENST00000459825.1:n.108-13233G>T | ||
| ENST00000463665.5:c.-132+1203G>T | ENSP00000418629.1:n.-132+1203G>T | |
| ENST00000471371.5:n.131-59377G>T | ||
| ENST00000477799.5:n.226-59377G>T | ||
| ENST00000488947.5:n.118-59377G>T | ||
| ENST00000493603.5:c.-223-59377G>T | ENSP00000419594.1:n.-223-59377G>T | |
| ENST00000493748.5:c.-106+1203G>T | ENSP00000417374.1:n.-106+1203G>T | |
| ENST00000586199.5:c.-149-59377G>T | ENSP00000466343.1:n.-149-59377G>T | |
| NM_001134285.2:c.-229-39365G>T | NP_001127757.1:n.-229-39365G>T | |
| NM_001243505.1:c.-374-59377G>T | NP_001230434.1:n.-374-59377G>T | |
| NM_001243506.1:c.-175-59377G>T | NP_001230435.1:n.-175-59377G>T | |
| NM_001243507.1:c.-132+1203G>T | NP_001230436.1:n.-132+1203G>T | |
| NM_001243509.1:c.-106+1203G>T | NP_001230438.1:n.-106+1203G>T | |
| NM_001243510.2:c.-223-59377G>T | NP_001230439.1:n.-223-59377G>T | |
| NM_001243511.2:c.-105-59377G>T | NP_001230440.1:n.-105-59377G>T | |
| NM_206594.2:c.-223-59377G>T | NP_996317.1:n.-223-59377G>T | |
| NM_206595.2:c.-105-59377G>T | NP_996318.1:n.-105-59377G>T | |
| XM_006711205.1:c.-105-59377G>T | XP_006711268.1:n.-105-59377G>T | |
| XM_011509273.1:c.-336-59377G>T | XP_011507575.1:n.-336-59377G>T | |
| XM_011509274.1:c.-105-59377G>T | XP_011507576.1:n.-105-59377G>T | |
| XM_011509275.1:c.-105-59377G>T | XP_011507577.1:n.-105-59377G>T | |
| XM_011509277.1:c.-105-59377G>T | XP_011507579.1:n.-105-59377G>T | |
| XM_011509278.1:c.-105-59377G>T | XP_011507580.1:n.-105-59377G>T | |
| NM_001350122.1:c.-284-59377G>T | NP_001337051.1:n.-284-59377G>T | |
| NM_001350123.1:c.-224-59377G>T | NP_001337052.1:n.-224-59377G>T | |
| NM_001350124.1:c.-402-59377G>T | NP_001337053.1:n.-402-59377G>T | |
| NM_001350125.1:c.-105-59377G>T | NP_001337054.1:n.-105-59377G>T | |
| XM_011509265.3:c.-436-59377G>T | XP_011507567.1:n.-436-59377G>T | |
| XM_011509266.3:c.-436-59377G>T | XP_011507568.1:n.-436-59377G>T | |
| XM_017000621.2:c.-436-59377G>T | XP_016856110.1:n.-436-59377G>T | |
| XM_017000622.1:c.-436-59377G>T | XP_016856111.1:n.-436-59377G>T | |
| XM_017000624.2:c.-436-59377G>T | XP_016856113.1:n.-436-59377G>T | |
| XM_017000625.1:c.-436-59377G>T | XP_016856114.1:n.-436-59377G>T | |
| XM_017000631.2:c.-342-59377G>T | XP_016856120.1:n.-342-59377G>T | |
| XM_017000632.2:c.-521-59377G>T | XP_016856121.1:n.-521-59377G>T | |
| XM_017000633.1:c.-223-59377G>T | XP_016856122.1:n.-223-59377G>T | |
| XM_017000634.2:c.-224-59377G>T | XP_016856123.1:n.-224-59377G>T | |
| XM_017000637.1:c.-402-59377G>T | XP_016856126.1:n.-402-59377G>T | |
| XM_017000638.2:c.-342-59377G>T | XP_016856127.1:n.-342-59377G>T | |
| XM_017000639.1:c.-223-59377G>T | XP_016856128.1:n.-223-59377G>T | |
| XM_017000644.1:c.-105-59377G>T | XP_016856133.1:n.-105-59377G>T | |
| XM_017000645.1:c.-105-59377G>T | XP_016856134.1:n.-105-59377G>T | |
| XM_024453959.1:c.-223-59377G>T | XP_024309727.1:n.-223-59377G>T | |
| XM_024453960.1:c.-223-59377G>T | XP_024309728.1:n.-223-59377G>T | |
| XM_024453975.1:c.-223-59377G>T | XP_024309743.1:n.-223-59377G>T | |
| XM_024453979.1:c.-223-59377G>T | XP_024309747.1:n.-223-59377G>T | |
| XM_024453980.1:c.-223-59377G>T | XP_024309748.1:n.-223-59377G>T | |
| NM_001134285.3:c.-229-39365G>T | NP_001127757.1:n.-229-39365G>T | |
| NM_001243505.2:c.-374-59377G>T | NP_001230434.1:n.-374-59377G>T | |
| NM_001243506.2:c.-175-59377G>T | NP_001230435.1:n.-175-59377G>T | |
| NM_001243507.2:c.-132+1203G>T | NP_001230436.1:n.-132+1203G>T | |
| NM_001243509.2:c.-106+1203G>T | NP_001230438.1:n.-106+1203G>T | |
| NM_001243510.3:c.-223-59377G>T | NP_001230439.1:n.-223-59377G>T | |
| NM_001243511.3:c.-105-59377G>T | NP_001230440.1:n.-105-59377G>T | |
| NM_001350122.2:c.-284-59377G>T | NP_001337051.1:n.-284-59377G>T | |
| NM_001350123.2:c.-224-59377G>T | NP_001337052.1:n.-224-59377G>T | |
| NM_001350124.2:c.-402-59377G>T | NP_001337053.1:n.-402-59377G>T | |
| NM_001350125.2:c.-105-59377G>T | NP_001337054.1:n.-105-59377G>T | |
| NM_206595.3:c.-105-59377G>T | NP_996318.1:n.-105-59377G>T | |
| NM_206594.3:c.-223-59377G>T | NP_996317.1:n.-223-59377G>T |