ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88588875G>A , CM000664.2:g.88588875G>A | GRCh38 |
| NC_000002.11:g.88888393G>A , CM000664.1:g.88888393G>A | GRCh37 |
| NC_000002.10:g.88669508G>A | NCBI36 |
| NG_016424.1:g.43702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681996.1:n.2383C>T | ||
| ENST00000682276.1:n.637C>T | ||
| ENST00000682892.1:c.739C>T | ENSP00000507214.1:p.Gln247Ter | |
| ENST00000682952.1:n.831C>T | ||
| ENST00000684455.1:c.405C>T | ||
| ENST00000684642.1:c.589C>T | ENSP00000507355.1:p.Gln197Ter | |
| ENST00000303236.9:c.1192C>T MANE Select | ENSP00000307235.3:p.Gln398Ter | |
| ENST00000652099.1:c.1386C>T | ||
| ENST00000652736.1:n.1068C>T | ||
| ENST00000303236.7:c.1192C>T | ENSP00000307235.3:p.Gln398Ter | |
| ENST00000415570.1:c.829C>T | ENSP00000412076.1:p.Gln277Ter | |
| ENST00000419748.5:c.739C>T | ENSP00000408325.1:p.Gln247Ter | |
| NM_001313915.1:c.739C>T | NP_001300844.1:p.Gln247Ter | |
| NM_004836.5:c.1192C>T | NP_004827.4:p.Gln398Ter | |
| NM_004836.6:c.1192C>T | NP_004827.4:p.Gln398Ter | |
| XM_005264649.3:c.508C>T | XP_005264706.1:p.Gln170Ter | |
| XR_939749.1:n.1401C>T | ||
| XM_017005376.2:c.508C>T | XP_016860865.1:p.Gln170Ter | |
| NM_004836.7:c.1192C>T MANE Select | NP_004827.4:p.Gln398Ter | |
| NM_001313915.2:c.739C>T | NP_001300844.1:p.Gln247Ter |