Linked Data
ClinVar Variation Id:
2405966
ClinVar RCV Id:
RCV004235139
dbSNP Id:
rs374084026
ExAC:
8:104388186 C / T
gnomAD v2:
8-104388186-C-T
gnomAD v3:
8-103375958-C-T
gnomAD v4:
8-103375958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103375958C>T , CM000670.2:g.103375958C>T | GRCh38 |
| NC_000008.10:g.104388186C>T , CM000670.1:g.104388186C>T | GRCh37 |
| NC_000008.9:g.104457362C>T | NCBI36 |
| NG_031985.1:g.9444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330295.10:c.371C>T MANE Select | ENSP00000330523.5:p.Ala124Val | |
| ENST00000330295.9:c.371C>T | ENSP00000330523.5:p.Ala124Val | |
| ENST00000415886.2:c.371C>T | ENSP00000416045.2:p.Ala124Val | |
| ENST00000520337.1:c.329C>T | ENSP00000430550.1:p.Ala110Val | |
| NM_001256099.1:c.329C>T | NP_001243028.1:p.Ala110Val | |
| NM_138455.3:c.371C>T | NP_612464.1:p.Ala124Val | |
| XM_011516824.1:c.371C>T | XP_011515126.1:p.Ala124Val | |
| XM_011516824.2:c.371C>T | XP_011515126.1:p.Ala124Val | |
| NM_138455.4:c.371C>T MANE Select | NP_612464.1:p.Ala124Val | |
| NM_001256099.2:c.329C>T | NP_001243028.1:p.Ala110Val |