Linked Data
ClinVar Variation Id:
16525
ClinVar RCV Id:
RCV000017989
dbSNP Id:
rs121913065
ExAC:
6:6266848 G / A
gnomAD v2:
6-6266848-G-A
gnomAD v4:
6-6266615-G-A
COSMIC:
COSM3160071
PubMed:
PMID:7918041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6266615G>A , CM000668.2:g.6266615G>A | GRCh38 |
| NC_000006.11:g.6266848G>A , CM000668.1:g.6266848G>A | GRCh37 |
| NC_000006.10:g.6211847G>A | NCBI36 |
| NG_008107.1:g.59077C>T , LRG_549:g.59077C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.514C>T MANE Select | ENSP00000264870.3:p.Arg172Ter | |
| ENST00000264870.7:c.514C>T | ENSP00000264870.3:p.Arg172Ter | |
| ENST00000479211.1:n.499C>T | ||
| NM_000129.3:c.514C>T , LRG_549t1:c.514C>T | NP_000120.2:p.Arg172Ter | |
| XM_006715010.2:c.514C>T | XP_006715073.1:p.Arg172Ter | |
| XM_011514342.1:c.676C>T | XP_011512644.1:p.Arg226Ter | |
| NM_000129.4:c.514C>T MANE Select | NP_000120.2:p.Arg172Ter |