Linked Data
ClinVar Variation Id:
2123
ClinVar RCV Id:
RCV000002205
dbSNP Id:
rs113994154
gnomAD v4:
17-75522108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522108C>T , CM000679.2:g.75522108C>T | GRCh38 |
| NC_000017.10:g.73518189C>T , CM000679.1:g.73518189C>T | GRCh37 |
| NC_000017.9:g.71029784C>T | NCBI36 |
| NG_013041.1:g.10581C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.1027C>T MANE Select | ENSP00000327487.6:p.Gln343Ter | |
| ENST00000434205.8:c.724C>T | ENSP00000406559.4:p.Gln242Ter | |
| ENST00000545228.3:c.1027C>T | ENSP00000438169.3:p.Gln343Ter | |
| ENST00000579449.2:n.826C>T | ||
| ENST00000580013.6:n.1230C>T | ||
| ENST00000679370.1:n.1608C>T | ||
| ENST00000679429.1:c.*485C>T | ENSP00000505403.1:n.*485C>T | |
| ENST00000679443.1:n.1096C>T | ||
| ENST00000679782.1:c.1027C>T | ENSP00000505995.1:p.Gln343Ter | |
| ENST00000679919.1:n.1096C>T | ||
| ENST00000679928.1:c.*638C>T | ENSP00000506071.1:n.*638C>T | |
| ENST00000680528.1:n.1052C>T | ||
| ENST00000680999.1:c.1027C>T | ENSP00000504984.1:p.Gln343Ter | |
| ENST00000681282.1:c.*273C>T | ENSP00000506339.1:n.*273C>T | |
| ENST00000333213.10:c.1027C>T | ENSP00000327487.6:p.Gln343Ter | |
| ENST00000545228.2:c.116C>T | ||
| ENST00000578415.1:c.987C>T | ||
| ENST00000583173.5:c.560C>T | ENSP00000463619.1:n.560C>T | |
| NM_207346.2:c.1027C>T | NP_997229.2:p.Gln343Ter | |
| XM_005257229.2:c.1027C>T | XP_005257286.1:p.Gln343Ter | |
| XM_006721821.2:c.724C>T | XP_006721884.1:p.Gln242Ter | |
| XM_011524616.1:c.1027C>T | XP_011522918.1:p.Gln343Ter | |
| XM_011524617.1:c.1027C>T | XP_011522919.1:p.Gln343Ter | |
| XM_011524618.1:c.1027C>T | XP_011522920.1:p.Gln343Ter | |
| XR_243646.2:n.1057C>T | ||
| XM_005257229.4:c.1027C>T | XP_005257286.1:p.Gln343Ter | |
| XR_243646.4:n.1063C>T | ||
| NM_207346.3:c.1027C>T MANE Select | NP_997229.2:p.Gln343Ter |