Linked Data
dbSNP Id:
rs10989591
ExAC:
9:104449098 C / T
gnomAD v2:
9-104449098-C-T
gnomAD v3:
9-101686816-C-T
gnomAD v4:
9-101686816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101686816C>T , CM000671.2:g.101686816C>T | GRCh38 |
| NC_000009.11:g.104449098C>T , CM000671.1:g.104449098C>T | GRCh37 |
| NC_000009.10:g.103488919C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361820.6:c.1084G>A MANE Select | ENSP00000355155.3:p.Val362Met | |
| ENST00000361820.3:c.1084G>A | ENSP00000355155.3:p.Val362Met | |
| NM_133445.2:c.1084G>A | NP_597702.2:p.Val362Met | |
| XM_011518211.1:c.1084G>A | XP_011516513.1:p.Val362Met | |
| XM_011518212.1:c.1084G>A | XP_011516514.1:p.Val362Met | |
| XR_929711.1:n.1171G>A | ||
| XM_011518211.2:c.1084G>A | XP_011516513.1:p.Val362Met | |
| NM_133445.3:c.1084G>A MANE Select | NP_597702.2:p.Val362Met |