Linked Data
ClinVar Variation Id:
6629
ClinVar RCV Id:
RCV000007008
dbSNP Id:
rs121908925
PubMed:
PMID:15181077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674753T>A , CM000671.2:g.136674753T>A | GRCh38 |
| NC_000009.11:g.139569205T>A , CM000671.1:g.139569205T>A | GRCh37 |
| NC_000009.10:g.138689026T>A | NCBI36 |
| NG_008090.1:g.17707A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.643A>T MANE Select | ENSP00000360761.2:p.Lys215Ter | |
| ENST00000371694.7:c.547A>T | ENSP00000360759.3:p.Lys183Ter | |
| ENST00000371696.6:c.643A>T | ENSP00000360761.2:p.Lys215Ter | |
| ENST00000472820.1:n.571A>T | ||
| ENST00000538402.1:c.643A>T | ENSP00000438919.1:p.Lys215Ter | |
| NM_001012727.1:c.547A>T | NP_001012745.1:p.Lys183Ter | |
| NM_006412.3:c.643A>T | NP_006403.2:p.Lys215Ter | |
| NM_006412.4:c.643A>T MANE Select | NP_006403.2:p.Lys215Ter | |
| NM_001012727.2:c.547A>T | NP_001012745.1:p.Lys183Ter |