Linked Data
dbSNP Id:
rs1225244453
gnomAD v2:
5-33963890-A-T
gnomAD v3:
5-33963785-A-T
gnomAD v4:
5-33963785-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963785A>T , CM000667.2:g.33963785A>T | GRCh38 |
| NC_000005.9:g.33963890A>T , CM000667.1:g.33963890A>T | GRCh37 |
| NC_000005.8:g.33999647A>T | NCBI36 |
| NG_011691.2:g.25891T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.794T>A MANE Select | ENSP00000296589.4:p.Met265Lys | |
| ENST00000296589.8:c.794T>A | ENSP00000296589.4:p.Met265Lys | |
| ENST00000382102.7:c.794T>A | ENSP00000371534.3:p.Met265Lys | |
| ENST00000505056.1:n.596T>A | ||
| ENST00000509381.1:c.563-9281T>A | ENSP00000421100.1:n.563-9281T>A | |
| ENST00000510600.1:c.269T>A | ENSP00000424010.1:p.Met90Lys | |
| NM_001012509.3:c.794T>A | NP_001012527.1:p.Met265Lys | |
| NM_001297417.2:c.563-9281T>A | NP_001284346.2:n.563-9281T>A | |
| NM_016180.4:c.794T>A | NP_057264.3:p.Met265Lys | |
| XM_011514051.1:c.392T>A | XP_011512353.1:p.Met131Lys | |
| XM_011514052.1:c.794T>A | XP_011512354.1:p.Met265Lys | |
| XR_925620.1:n.1611T>A | ||
| NM_016180.5:c.794T>A MANE Select | NP_057264.4:p.Met265Lys | |
| NM_001012509.4:c.794T>A | NP_001012527.2:p.Met265Lys | |
| NM_001297417.3:c.563-9281T>A | NP_001284346.2:n.563-9281T>A | |
| NM_001297417.4:c.563-9281T>A | NP_001284346.2:n.563-9281T>A |