Linked Data
ClinVar Variation Id:
16407
ClinVar RCV Id:
RCV000017867
dbSNP Id:
rs121909611
gnomAD v2:
4-155507143-T-A
gnomAD v3:
4-154585991-T-A
gnomAD v4:
4-154585991-T-A
PubMed:
PMID:8473507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154585991T>A , CM000666.2:g.154585991T>A | GRCh38 |
| NC_000004.11:g.155507143T>A , CM000666.1:g.155507143T>A | GRCh37 |
| NC_000004.10:g.155726593T>A | NCBI36 |
| NG_008832.1:g.9755A>T , LRG_557:g.9755A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651975.2:c.1438A>T | ENSP00000498441.1:p.Lys480Ter | |
| ENST00000403106.8:c.1438A>T MANE Select | ENSP00000385981.3:p.Lys480Ter | |
| ENST00000651975.1:c.1438A>T | ENSP00000498441.1:p.Lys480Ter | |
| ENST00000302053.7:c.1438A>T | ENSP00000306361.3:p.Lys480Ter | |
| ENST00000403106.7:c.1438A>T | ENSP00000385981.3:p.Lys480Ter | |
| ENST00000622532.1:c.644-281A>T | ENSP00000478487.1:n.644-281A>T | |
| NM_000508.3:c.1438A>T , LRG_557t1:c.1438A>T | NP_000499.1:p.Lys480Ter | |
| NM_021871.2:c.1438A>T , LRG_557t2:c.1438A>T | NP_068657.1:p.Lys480Ter | |
| NM_000508.4:c.1438A>T | NP_000499.1:p.Lys480Ter | |
| NM_021871.3:c.1438A>T | NP_068657.1:p.Lys480Ter | |
| NM_021871.4:c.1438A>T MANE Select | NP_068657.1:p.Lys480Ter | |
| NM_000508.5:c.1438A>T | NP_000499.1:p.Lys480Ter |