Linked Data
ClinVar Variation Id:
2957103
ClinVar RCV Id:
RCV003818790
dbSNP Id:
rs1169876176
gnomAD v2:
22-29876373-C-T
gnomAD v3:
22-29480384-C-T
gnomAD v4:
22-29480384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480384C>T , CM000684.2:g.29480384C>T | GRCh38 |
| NC_000022.10:g.29876373C>T , CM000684.1:g.29876373C>T | GRCh37 |
| NC_000022.9:g.28206373C>T | NCBI36 |
| NG_008404.1:g.5193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.122C>T MANE Select | ENSP00000311997.6:p.Ala41Val | |
| ENST00000310624.6:c.122C>T | ENSP00000311997.6:p.Ala41Val | |
| NM_021076.3:c.122C>T | NP_066554.2:p.Ala41Val | |
| XM_011530200.1:c.122C>T | XP_011528502.1:p.Ala41Val | |
| XM_011530200.2:c.122C>T | XP_011528502.1:p.Ala41Val | |
| NM_021076.4:c.122C>T MANE Select | NP_066554.2:p.Ala41Val |