Linked Data
ClinVar Variation Id:
1394016
ClinVar RCV Id:
RCV001884681
dbSNP Id:
rs2042870613
gnomAD v4:
15-73322901-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322901C>G , CM000677.2:g.73322901C>G | GRCh38 |
| NC_000015.9:g.73615242C>G , CM000677.1:g.73615242C>G | GRCh37 |
| NC_000015.8:g.71402295C>G | NCBI36 |
| NG_009063.1:g.51364G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3192G>C MANE Select | ENSP00000261917.3:p.Gln1064His | |
| ENST00000261917.3:c.3192G>C | ENSP00000261917.3:p.Gln1064His | |
| NM_005477.2:c.3192G>C | NP_005468.1:p.Gln1064His | |
| XM_011521148.1:c.1974G>C | XP_011519450.1:p.Gln658His | |
| XM_011521148.2:c.1974G>C | XP_011519450.1:p.Gln658His | |
| NM_005477.3:c.3192G>C MANE Select | NP_005468.1:p.Gln1064His |