Linked Data
ClinVar Variation Id:
16539
dbSNP Id:
rs267606789
ExAC:
6:6152107 G / A
gnomAD v2:
6-6152107-G-A
gnomAD v3:
6-6151874-G-A
gnomAD v4:
6-6151874-G-A
COSMIC:
COSM3830909
PubMed:
PMID:8025280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6151874G>A , CM000668.2:g.6151874G>A | GRCh38 |
| NC_000006.11:g.6152107G>A , CM000668.1:g.6152107G>A | GRCh37 |
| NC_000006.10:g.6097106G>A | NCBI36 |
| NG_008107.1:g.173818C>T , LRG_549:g.173818C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.1984C>T MANE Select | ENSP00000264870.3:p.Arg662Ter | |
| ENST00000264870.7:c.1984C>T | ENSP00000264870.3:p.Arg662Ter | |
| NM_000129.3:c.1984C>T , LRG_549t1:c.1984C>T | NP_000120.2:p.Arg662Ter | |
| XM_006715010.2:c.1984C>T | XP_006715073.1:p.Arg662Ter | |
| XM_011514342.1:c.2146C>T | XP_011512644.1:p.Arg716Ter | |
| NM_000129.4:c.1984C>T MANE Select | NP_000120.2:p.Arg662Ter |