Linked Data
ClinVar Variation Id:
16531
ClinVar RCV Id:
RCV000017995
dbSNP Id:
rs121913071
ExAC:
6:6248561 C / T
gnomAD v2:
6-6248561-C-T
gnomAD v3:
6-6248328-C-T
gnomAD v4:
6-6248328-C-T
COSMIC:
COSM1205920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6248328C>T , CM000668.2:g.6248328C>T | GRCh38 |
| NC_000006.11:g.6248561C>T , CM000668.1:g.6248561C>T | GRCh37 |
| NC_000006.10:g.6193560C>T | NCBI36 |
| NG_008107.1:g.77364G>A , LRG_549:g.77364G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.782G>A MANE Select | ENSP00000264870.3:p.Arg261His | |
| ENST00000264870.7:c.782G>A | ENSP00000264870.3:p.Arg261His | |
| NM_000129.3:c.782G>A , LRG_549t1:c.782G>A | NP_000120.2:p.Arg261His | |
| XM_006715010.2:c.782G>A | XP_006715073.1:p.Arg261His | |
| XM_011514342.1:c.944G>A | XP_011512644.1:p.Arg315His | |
| NM_000129.4:c.782G>A MANE Select | NP_000120.2:p.Arg261His |