Linked Data
dbSNP Id:
rs538019067
ExAC:
1:113460411 C / T
gnomAD v2:
1-113460411-C-T
gnomAD v3:
1-112917789-C-T
gnomAD v4:
1-112917789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917789C>T , CM000663.2:g.112917789C>T | GRCh38 |
| NC_000001.10:g.113460411C>T , CM000663.1:g.113460411C>T | GRCh37 |
| NC_000001.9:g.113261934C>T | NCBI36 |
| NG_015880.2:g.43140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.617G>A MANE Select | ENSP00000358640.4:p.Gly206Glu | |
| ENST00000429288.2:c.617G>A | ENSP00000397106.2:p.Gly206Glu | |
| ENST00000443580.6:c.617G>A | ENSP00000399104.2:p.Gly206Glu | |
| ENST00000458229.6:c.617G>A | ENSP00000416167.2:p.Gly206Glu | |
| ENST00000679803.1:c.617G>A | ENSP00000505879.1:p.Gly206Glu | |
| ENST00000679846.1:n.1534G>A | ||
| ENST00000369626.7:c.617G>A | ENSP00000358640.3:p.Gly206Glu | |
| ENST00000429288.1:c.617G>A | ENSP00000397106.1:p.Gly206Glu | |
| ENST00000443580.5:c.617G>A | ENSP00000399104.1:p.Gly206Glu | |
| ENST00000458229.5:c.617G>A | ENSP00000416167.1:p.Gly206Glu | |
| ENST00000538576.5:c.617G>A | ENSP00000441065.1:p.Gly206Glu | |
| NM_001166496.1:c.617G>A | NP_001159968.1:p.Gly206Glu | |
| NM_003051.3:c.617G>A | NP_003042.3:p.Gly206Glu | |
| XM_011542026.1:c.617G>A | XP_011540328.1:p.Gly206Glu | |
| XM_011542027.1:c.617G>A | XP_011540329.1:p.Gly206Glu | |
| NM_003051.4:c.617G>A MANE Select | NP_003042.3:p.Gly206Glu | |
| NM_001166496.2:c.617G>A | NP_001159968.1:p.Gly206Glu |