Linked Data
ClinVar Variation Id:
940659
ClinVar RCV Id:
RCV001210291
dbSNP Id:
rs79931499
ExAC:
12:103234255 C / T
gnomAD v2:
12-103234255-C-T
gnomAD v3:
12-102840477-C-T
gnomAD v4:
12-102840477-C-T
COSMIC:
COSM3810809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840477C>T , CM000674.2:g.102840477C>T | GRCh38 |
| NC_000012.11:g.103234255C>T , CM000674.1:g.103234255C>T | GRCh37 |
| NC_000012.10:g.101758385C>T | NCBI36 |
| NG_008690.1:g.82126G>A | |
| NG_008690.2:g.122934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1238G>A MANE Select | ENSP00000448059.1:p.Arg413His | |
| ENST00000307000.7:c.1223G>A | ENSP00000303500.2:p.Arg408His | |
| ENST00000551114.2:n.900G>A | ||
| ENST00000553106.5:c.1238G>A | ENSP00000448059.1:p.Arg413His | |
| ENST00000635477.1:c.342G>A | ||
| ENST00000635528.1:n.753G>A | ||
| NM_000277.1:c.1238G>A | NP_000268.1:p.Arg413His | |
| XM_011538422.1:c.1181G>A | XP_011536724.1:p.Arg394His | |
| NM_000277.2:c.1238G>A | NP_000268.1:p.Arg413His | |
| NM_001354304.1:c.1238G>A | NP_001341233.1:p.Arg413His | |
| NM_000277.3:c.1238G>A MANE Select | NP_000268.1:p.Arg413His | |
| NM_001354304.2:c.1238G>A | NP_001341233.1:p.Arg413His |