Linked Data
ClinVar Variation Id:
2619381
ClinVar RCV Id:
RCV003381269
dbSNP Id:
rs768739418
ExAC:
2:27424706 C / T
gnomAD v2:
2-27424706-C-T
gnomAD v3:
2-27201838-C-T
gnomAD v4:
2-27201838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27201838C>T , CM000664.2:g.27201838C>T | GRCh38 |
| NC_000002.11:g.27424706C>T , CM000664.1:g.27424706C>T | GRCh37 |
| NC_000002.10:g.27278210C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310574.8:c.1372G>A MANE Select | ENSP00000310208.3:p.Val458Met | |
| ENST00000310574.7:c.1372G>A | ENSP00000310208.3:p.Val458Met | |
| ENST00000408041.5:c.1372G>A | ENSP00000384853.1:p.Val458Met | |
| ENST00000461319.5:n.310G>A | ||
| ENST00000461757.1:n.474G>A | ||
| ENST00000476319.1:n.788G>A | ||
| ENST00000481751.5:n.401G>A | ||
| ENST00000488743.6:n.2058G>A | ||
| ENST00000492069.5:n.579G>A | ||
| NM_021095.2:c.1372G>A | NP_066918.2:p.Val458Met | |
| NR_028323.1:n.2219G>A | ||
| XM_006712128.1:c.1372G>A | XP_006712191.1:p.Val458Met | |
| XM_006712129.1:c.1372G>A | XP_006712192.1:p.Val458Met | |
| XM_006712130.1:c.1372G>A | XP_006712193.1:p.Val458Met | |
| XM_011533144.1:c.1372G>A | XP_011531446.1:p.Val458Met | |
| XM_011533145.1:c.1372G>A | XP_011531447.1:p.Val458Met | |
| XM_011533146.1:c.703G>A | XP_011531448.1:p.Val235Met | |
| XR_939737.1:n.2219G>A | ||
| XM_006712128.2:c.1372G>A | XP_006712191.1:p.Val458Met | |
| XM_011533146.3:c.703G>A | XP_011531448.1:p.Val235Met | |
| XM_017005216.1:c.745G>A | XP_016860705.1:p.Val249Met | |
| XM_024453206.1:c.1372G>A | XP_024308974.1:p.Val458Met | |
| XM_024453207.1:c.1372G>A | XP_024308975.1:p.Val458Met | |
| XR_001739022.1:n.1668G>A | ||
| XR_001739023.1:n.1598G>A | ||
| XR_001739024.2:n.1665G>A | ||
| XR_001739025.2:n.1604G>A | ||
| XR_002959356.1:n.1902G>A | ||
| XR_002959357.1:n.1837G>A | ||
| XR_002959358.1:n.1837G>A | ||
| NM_021095.3:c.1372G>A | NP_066918.2:p.Val458Met | |
| NM_021095.4:c.1372G>A MANE Select | NP_066918.2:p.Val458Met | |
| NR_028323.2:n.2180G>A |