Linked Data
ClinVar Variation Id:
17423
ClinVar RCV Id:
RCV000018969
dbSNP Id:
rs121912828
gnomAD v3:
3-48566281-A-T
gnomAD v4:
3-48566281-A-T
PubMed:
PMID:8513326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48566281A>T , CM000665.2:g.48566281A>T | GRCh38 |
| NC_000003.11:g.48603714A>T , CM000665.1:g.48603714A>T | GRCh37 |
| NC_000003.10:g.48578718A>T | NCBI36 |
| NG_007065.1:g.33972T>A , LRG_286:g.33972T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.8393T>A MANE Select | ENSP00000506558.1:p.Met2798Lys | |
| ENST00000328333.12:c.8393T>A | ENSP00000332371.8:p.Met2798Lys | |
| ENST00000487017.5:n.5032T>A | ||
| NM_000094.3:c.8393T>A , LRG_286t1:c.8393T>A | NP_000085.1:p.Met2798Lys | |
| XM_011533336.1:c.8420T>A | XP_011531638.1:p.Met2807Lys | |
| XM_011533337.1:c.8393T>A | XP_011531639.1:p.Met2798Lys | |
| XM_011533338.1:c.8360T>A | XP_011531640.1:p.Met2787Lys | |
| XR_940369.1:n.8456T>A | ||
| XR_940370.1:n.8456T>A | ||
| XR_940371.1:n.8456T>A | ||
| XM_017005688.1:c.8333T>A | XP_016861177.1:p.Met2778Lys | |
| XR_001740003.1:n.8429T>A | ||
| XR_001740004.1:n.8429T>A | ||
| XR_001740005.1:n.8429T>A | ||
| NM_000094.4:c.8393T>A MANE Select | NP_000085.1:p.Met2798Lys |