Linked Data
ClinVar Variation Id:
2167518
ClinVar RCV Id:
RCV003086483
dbSNP Id:
rs760486007
ExAC:
4:178360784 C / T
gnomAD v2:
4-178360784-C-T
gnomAD v3:
4-177439630-C-T
gnomAD v4:
4-177439630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439630C>T , CM000666.2:g.177439630C>T | GRCh38 |
| NC_000004.11:g.178360784C>T , CM000666.1:g.178360784C>T | GRCh37 |
| NC_000004.10:g.178597778C>T | NCBI36 |
| NG_011845.2:g.7874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.340G>A MANE Select | ENSP00000264595.2:p.Val114Met | |
| ENST00000264595.6:c.340G>A | ENSP00000264595.2:p.Val114Met | |
| ENST00000506853.5:n.374G>A | ||
| ENST00000510635.1:c.36G>A | ||
| ENST00000510955.5:n.315+643G>A | ||
| NM_000027.3:c.340G>A | NP_000018.2:p.Val114Met | |
| NM_001171988.1:c.340G>A | NP_001165459.1:p.Val114Met | |
| NR_033655.1:n.468G>A | ||
| XM_006714123.2:c.340G>A | XP_006714186.1:p.Val114Met | |
| XR_001741155.2:n.434G>A | ||
| NM_000027.4:c.340G>A MANE Select | NP_000018.2:p.Val114Met | |
| NM_001171988.2:c.340G>A | NP_001165459.1:p.Val114Met | |
| NR_033655.2:n.402G>A |