Linked Data
ClinVar Variation Id:
161714
ClinVar RCV Id:
RCV000149250
dbSNP Id:
rs145867129
ExAC:
6:576834 C / T
gnomAD v2:
6-576834-C-T
gnomAD v3:
6-576834-C-T
gnomAD v4:
6-576834-C-T
COSMIC:
COSM1179719
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.576834C>T , CM000668.2:g.576834C>T | GRCh38 |
| NC_000006.11:g.576834C>T , CM000668.1:g.576834C>T | GRCh37 |
| NC_000006.10:g.521834C>T | NCBI36 |
| NG_047166.1:g.121308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230449.9:c.1241G>A MANE Select | ENSP00000230449.4:p.Arg414His | |
| ENST00000230449.8:c.1241G>A | ENSP00000230449.4:p.Arg414His | |
| NM_018303.5:c.1241G>A | NP_060773.3:p.Arg414His | |
| NR_073064.1:n.1569G>A | ||
| XM_017011018.1:c.1241G>A | XP_016866507.1:p.Arg414His | |
| XM_017011019.1:c.1241G>A | XP_016866508.1:p.Arg414His | |
| XM_017011020.1:c.1241G>A | XP_016866509.1:p.Arg414His | |
| XM_017011021.1:c.1241G>A | XP_016866510.1:p.Arg414His | |
| XM_017011022.1:c.1241G>A | XP_016866511.1:p.Arg414His | |
| XM_017011023.1:c.1241G>A | XP_016866512.1:p.Arg414His | |
| XM_017011024.1:c.1241G>A | XP_016866513.1:p.Arg414His | |
| XM_017011025.1:c.1241G>A | XP_016866514.1:p.Arg414His | |
| XM_017011026.1:c.1241G>A | XP_016866515.1:p.Arg414His | |
| NM_018303.6:c.1241G>A MANE Select | NP_060773.3:p.Arg414His | |
| NR_073064.2:n.1567G>A |