ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343470C>T , CM000677.2:g.73343470C>T | GRCh38 |
| NC_000015.9:g.73635811C>T , CM000677.1:g.73635811C>T | GRCh37 |
| NC_000015.8:g.71422864C>T | NCBI36 |
| NG_009063.1:g.30795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1124G>A MANE Select | ENSP00000261917.3:p.Arg375His | |
| ENST00000261917.3:c.1124G>A | ENSP00000261917.3:p.Arg375His | |
| NM_005477.2:c.1124G>A | NP_005468.1:p.Arg375His | |
| NM_005477.3:c.1124G>A MANE Select | NP_005468.1:p.Arg375His |