Linked Data
ClinVar Variation Id:
13526
ClinVar RCV Id:
RCV000014481
dbSNP Id:
rs291102
ExAC:
1:207106478 G / A
gnomAD v2:
1-207106478-G-A
gnomAD v3:
1-206933133-G-A
gnomAD v4:
1-206933133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206933133G>A , CM000663.2:g.206933133G>A | GRCh38 |
| NC_000001.10:g.207106478G>A , CM000663.1:g.207106478G>A | GRCh37 |
| NC_000001.9:g.205173101G>A | NCBI36 |
| NG_012927.1:g.18334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356495.5:c.1739C>T MANE Select | ENSP00000348888.4:p.Ala580Val | |
| ENST00000356495.4:c.1739C>T | ENSP00000348888.4:p.Ala580Val | |
| NM_002644.3:c.1739C>T | NP_002635.2:p.Ala580Val | |
| XM_011509629.1:c.1739C>T | XP_011507931.1:p.Ala580Val | |
| NM_002644.4:c.1739C>T MANE Select | NP_002635.2:p.Ala580Val |