Linked Data
ClinVar Variation Id:
2908735
ClinVar RCV Id:
RCV003615613
dbSNP Id:
rs147422987
ExAC:
20:17475039 G / A
gnomAD v2:
20-17475039-G-A
gnomAD v4:
20-17494394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17494394G>A , CM000682.2:g.17494394G>A | GRCh38 |
| NC_000020.10:g.17475039G>A , CM000682.1:g.17475039G>A | GRCh37 |
| NC_000020.9:g.17423039G>A | NCBI36 |
| NG_012423.2:g.79827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.1678C>T MANE Select | ENSP00000367104.3:p.Arg560Cys | |
| ENST00000536626.7:c.1261C>T | ENSP00000442522.1:p.Arg421Cys | |
| ENST00000377868.6:c.1303C>T | ENSP00000367099.2:p.Arg435Cys | |
| ENST00000377873.7:c.1678C>T | ENSP00000367104.3:p.Arg560Cys | |
| ENST00000536626.5:c.1261C>T | ENSP00000442522.1:p.Arg421Cys | |
| NM_001161705.1:c.1303C>T | NP_001155177.1:p.Arg435Cys | |
| NM_001195.4:c.1678C>T | NP_001186.1:p.Arg560Cys | |
| NM_001278606.1:c.1261C>T | NP_001265535.1:p.Arg421Cys | |
| NM_001278607.1:c.1345C>T | NP_001265536.1:p.Arg449Cys | |
| NM_001278608.1:c.1261C>T | NP_001265537.1:p.Arg421Cys | |
| XM_011529312.1:c.1261C>T | XP_011527614.1:p.Arg421Cys | |
| XM_017028005.2:c.1570C>T | XP_016883494.1:p.Arg524Cys | |
| NM_001195.5:c.1678C>T MANE Select | NP_001186.1:p.Arg560Cys | |
| NM_001161705.2:c.1303C>T | NP_001155177.1:p.Arg435Cys | |
| NM_001278606.2:c.1261C>T | NP_001265535.1:p.Arg421Cys | |
| NM_001278607.2:c.1345C>T | NP_001265536.1:p.Arg449Cys | |
| NM_001278608.2:c.1261C>T | NP_001265537.1:p.Arg421Cys |