Linked Data
ClinVar Variation Id:
1722638
dbSNP Id:
rs1557229502
gnomAD v2:
X-153760473-G-A
gnomAD v3:
X-154532258-G-A
gnomAD v4:
X-154532258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532258G>A , CM000685.2:g.154532258G>A | GRCh38 |
| NC_000023.10:g.153760473G>A , CM000685.1:g.153760473G>A | GRCh37 |
| NC_000023.9:g.153413667G>A | NCBI36 |
| NG_009015.2:g.20315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1387C>T | ENSP00000377194.2:p.Arg463Cys | |
| ENST00000439227.6:c.1390C>T | ENSP00000395599.2:p.Arg464Cys | |
| ENST00000696420.1:c.1387C>T | ENSP00000512615.1:p.Arg463Cys | |
| ENST00000696421.1:c.1387C>T | ENSP00000512616.1:p.Arg463Cys | |
| ENST00000696422.1:c.1250C>T | ||
| ENST00000696423.1:c.1253C>T | ||
| ENST00000696424.1:c.1239C>T | ENSP00000512619.1:n.1239C>T | |
| ENST00000696425.1:c.*300C>T | ENSP00000512620.1:n.*300C>T | |
| ENST00000696426.1:c.*847C>T | ENSP00000512621.1:n.*847C>T | |
| ENST00000696427.1:c.*347C>T | ENSP00000512622.1:n.*347C>T | |
| ENST00000696428.1:c.*1229C>T | ENSP00000512623.1:n.*1229C>T | |
| ENST00000696429.1:c.1387C>T | ENSP00000512624.1:p.Arg463Cys | |
| ENST00000696430.1:c.1387C>T | ENSP00000512625.1:p.Arg463Cys | |
| ENST00000393562.10:c.1387C>T MANE Select | ENSP00000377192.3:p.Arg463Cys | |
| ENST00000369620.6:c.1525C>T | ENSP00000358633.2:p.Arg509Cys | |
| ENST00000393562.6:c.1477C>T | ENSP00000377192.2:p.Arg493Cys | |
| ENST00000393564.6:c.1387C>T | ENSP00000377194.2:p.Arg463Cys | |
| ENST00000490651.1:n.608C>T | ||
| ENST00000621232.4:c.1387C>T | ENSP00000483686.1:p.Arg463Cys | |
| NM_000402.4:c.1477C>T | NP_000393.4:p.Arg493Cys | |
| NM_001042351.2:c.1387C>T | NP_001035810.1:p.Arg463Cys | |
| XM_005274657.2:c.1480C>T | XP_005274714.1:p.Arg494Cys | |
| XM_005274658.2:c.1390C>T | XP_005274715.1:p.Arg464Cys | |
| NM_001360016.2:c.1387C>T MANE Select | NP_001346945.1:p.Arg463Cys | |
| NM_001042351.3:c.1387C>T | NP_001035810.1:p.Arg463Cys |