Linked Data
dbSNP Id:
rs1328785025
gnomAD v2:
16-1499277-C-A
gnomAD v3:
16-1449276-C-A
gnomAD v4:
16-1449276-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1449276C>A , CM000678.2:g.1449276C>A | GRCh38 |
| NC_000016.9:g.1499277C>A , CM000678.1:g.1499277C>A | GRCh37 |
| NC_000016.8:g.1439278C>A | NCBI36 |
| NG_007567.1:g.30809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.1669G>T | ENSP00000514703.1:p.Gly557Cys | |
| ENST00000699948.1:c.1624-183G>T | ENSP00000514704.1:n.1624-183G>T | |
| ENST00000382745.9:c.1669G>T MANE Select | ENSP00000372193.4:p.Gly557Cys | |
| ENST00000262318.12:c.1597G>T | ENSP00000262318.8:p.Gly533Cys | |
| ENST00000382745.8:c.1669G>T | ENSP00000372193.4:p.Gly557Cys | |
| ENST00000448525.5:c.1597G>T | ENSP00000410907.1:p.Gly533Cys | |
| ENST00000563642.6:n.1738G>T | ||
| ENST00000565092.6:n.522G>T | ||
| NM_001114331.2:c.1597G>T | NP_001107803.1:p.Gly533Cys | |
| NM_001287.5:c.1669G>T | NP_001278.1:p.Gly557Cys | |
| XM_011522354.1:c.1495G>T | XP_011520656.1:p.Gly499Cys | |
| NM_001287.6:c.1669G>T MANE Select | NP_001278.1:p.Gly557Cys | |
| NM_001114331.3:c.1597G>T | NP_001107803.1:p.Gly533Cys |