Linked Data
dbSNP Id:
rs1255756990
gnomAD v2:
4-170429932-G-C
gnomAD v3:
4-169508781-G-C
gnomAD v4:
4-169508781-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169508781G>C , CM000666.2:g.169508781G>C | GRCh38 |
| NC_000004.11:g.170429932G>C , CM000666.1:g.170429932G>C | GRCh37 |
| NC_000004.10:g.170666507G>C | NCBI36 |
| NG_027982.1:g.108847C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.1582-450C>G | ENSP00000508844.1:n.1582-450C>G | |
| ENST00000685677.1:n.1035C>G | ||
| ENST00000686697.1:c.1540-450C>G | ENSP00000508689.1:n.1540-450C>G | |
| ENST00000687054.1:n.2244-450C>G | ||
| ENST00000687219.1:c.*1253-450C>G | ENSP00000509736.1:n.*1253-450C>G | |
| ENST00000687528.1:c.1605C>G | ENSP00000510228.1:p.Asn535Lys | |
| ENST00000687643.1:c.1693-450C>G | ENSP00000509309.1:n.1693-450C>G | |
| ENST00000688934.1:c.-132-450C>G | ENSP00000510760.1:n.-132-450C>G | |
| ENST00000689190.1:n.1186C>G | ||
| ENST00000692450.1:c.*1402C>G | ENSP00000510283.1:n.*1402C>G | |
| ENST00000693085.1:c.*1493-450C>G | ENSP00000508746.1:n.*1493-450C>G | |
| ENST00000693604.1:c.*684-450C>G | ENSP00000509917.1:n.*684-450C>G | |
| ENST00000507142.6:c.1737C>G MANE Select | ENSP00000424757.2:p.Asn579Lys | |
| ENST00000439128.6:c.1666-450C>G | ENSP00000408020.2:n.1666-450C>G | |
| ENST00000507142.5:c.1737C>G | ENSP00000424757.1:p.Asn579Lys | |
| ENST00000510533.5:c.1534-450C>G | ENSP00000427653.1:n.1534-450C>G | |
| ENST00000511633.5:c.1605C>G | ENSP00000423332.1:p.Asn535Lys | |
| ENST00000512193.5:c.1459-450C>G | ENSP00000424938.1:n.1459-450C>G | |
| NM_001199397.1:c.1737C>G | NP_001186326.1:p.Asn579Lys | |
| NM_001199398.1:c.1605C>G | NP_001186327.1:p.Asn535Lys | |
| NM_001199399.1:c.1459-450C>G | NP_001186328.1:n.1459-450C>G | |
| NM_001199400.1:c.1534-450C>G | NP_001186329.1:n.1534-450C>G | |
| NM_012224.2:c.1666-450C>G | NP_036356.1:n.1666-450C>G | |
| XM_006714228.1:c.1737C>G | XP_006714291.1:p.Asn579Lys | |
| XM_011532003.1:c.1666-450C>G | XP_011530305.1:n.1666-450C>G | |
| XM_011532004.1:c.1534-450C>G | XP_011530306.1:n.1534-450C>G | |
| XM_011532005.1:c.1737C>G | XP_011530307.1:p.Asn579Lys | |
| XM_011532005.2:c.1737C>G | XP_011530307.1:p.Asn579Lys | |
| XM_017008249.1:c.1116C>G | XP_016863738.1:p.Asn372Lys | |
| XM_017008251.1:c.1045-450C>G | XP_016863740.1:n.1045-450C>G | |
| XM_017008252.2:c.1045-450C>G | XP_016863741.1:n.1045-450C>G | |
| XM_017008253.1:c.585C>G | XP_016863742.1:p.Asn195Lys | |
| XM_017008254.1:c.381C>G | XP_016863743.1:p.Asn127Lys | |
| XM_024454065.1:c.1116C>G | XP_024309833.1:p.Asn372Lys | |
| XR_001741233.1:n.2317C>G | ||
| XR_001741234.2:n.2130C>G | ||
| NM_001199397.3:c.1737C>G MANE Select | NP_001186326.1:p.Asn579Lys | |
| NM_001199398.2:c.1605C>G | NP_001186327.1:p.Asn535Lys | |
| NM_001199399.2:c.1459-450C>G | NP_001186328.1:n.1459-450C>G | |
| NM_001199400.2:c.1534-450C>G | NP_001186329.1:n.1534-450C>G | |
| NM_001374418.1:c.1737C>G | NP_001361347.1:p.Asn579Lys | |
| NM_001374419.1:c.1666-450C>G | NP_001361348.1:n.1666-450C>G | |
| NM_001374420.1:c.1615-450C>G | NP_001361349.1:n.1615-450C>G | |
| NM_001374421.1:c.1540-450C>G | NP_001361350.1:n.1540-450C>G | |
| NM_012224.3:c.1666-450C>G | NP_036356.1:n.1666-450C>G | |
| NR_164630.1:n.2212-450C>G | ||
| NM_001199398.3:c.1605C>G | NP_001186327.1:p.Asn535Lys | |
| NM_001199399.3:c.1459-450C>G | NP_001186328.1:n.1459-450C>G | |
| NM_001199400.3:c.1534-450C>G | NP_001186329.1:n.1534-450C>G | |
| NM_012224.4:c.1666-450C>G | NP_036356.1:n.1666-450C>G |