Linked Data
ClinVar Variation Id:
655767
ClinVar RCV Id:
RCV000812014
dbSNP Id:
rs917690151
gnomAD v2:
1-147380399-G-A
gnomAD v3:
1-147908272-G-A
gnomAD v4:
1-147908272-G-A
COSMIC:
COSM1580944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908272G>A , CM000663.2:g.147908272G>A | GRCh38 |
| NC_000001.10:g.147380399G>A , CM000663.1:g.147380399G>A | GRCh37 |
| NC_000001.9:g.145847023G>A | NCBI36 |
| NG_016242.1:g.10454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.317G>A MANE Select | ENSP00000358238.1:p.Arg106His | |
| ENST00000369235.1:c.317G>A | ENSP00000358238.1:p.Arg106His | |
| NM_005267.4:c.317G>A | NP_005258.2:p.Arg106His | |
| XM_011509416.1:c.317G>A | XP_011507718.1:p.Arg106His | |
| XM_011509417.1:c.317G>A | XP_011507719.1:p.Arg106His | |
| XM_011509417.2:c.317G>A | XP_011507719.1:p.Arg106His | |
| XR_002956281.1:n.1232G>A | ||
| NM_005267.5:c.317G>A MANE Select | NP_005258.2:p.Arg106His |