Linked Data
ClinVar Variation Id:
489043
ClinVar RCV Id:
RCV000578515
dbSNP Id:
rs778884343
ExAC:
17:73518279 C / T
gnomAD v4:
17-75522198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522198C>T , CM000679.2:g.75522198C>T | GRCh38 |
| NC_000017.10:g.73518279C>T , CM000679.1:g.73518279C>T | GRCh37 |
| NC_000017.9:g.71029874C>T | NCBI36 |
| NG_013041.1:g.10671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1117C>T MANE Select | ENSP00000327487.6:p.Gln373Ter | |
| ENST00000434205.8:c.814C>T | ENSP00000406559.4:p.Gln272Ter | |
| ENST00000545228.3:c.1117C>T | ENSP00000438169.3:p.Gln373Ter | |
| ENST00000579449.2:n.916C>T | ||
| ENST00000580013.6:n.1320C>T | ||
| ENST00000679370.1:n.1698C>T | ||
| ENST00000679429.1:c.*575C>T | ENSP00000505403.1:n.*575C>T | |
| ENST00000679443.1:n.1186C>T | ||
| ENST00000679782.1:c.1117C>T | ENSP00000505995.1:p.Gln373Ter | |
| ENST00000679919.1:n.1186C>T | ||
| ENST00000679928.1:c.*728C>T | ENSP00000506071.1:n.*728C>T | |
| ENST00000680528.1:n.1142C>T | ||
| ENST00000680999.1:c.1117C>T | ENSP00000504984.1:p.Gln373Ter | |
| ENST00000681282.1:c.*363C>T | ENSP00000506339.1:n.*363C>T | |
| ENST00000333213.10:c.1117C>T | ENSP00000327487.6:p.Gln373Ter | |
| ENST00000545228.2:c.206C>T | ||
| ENST00000583173.5:c.650C>T | ENSP00000463619.1:n.650C>T | |
| NM_207346.2:c.1117C>T | NP_997229.2:p.Gln373Ter | |
| XM_005257229.2:c.1117C>T | XP_005257286.1:p.Gln373Ter | |
| XM_006721821.2:c.814C>T | XP_006721884.1:p.Gln272Ter | |
| XM_011524616.1:c.1117C>T | XP_011522918.1:p.Gln373Ter | |
| XM_011524617.1:c.1117C>T | XP_011522919.1:p.Gln373Ter | |
| XM_011524618.1:c.1117C>T | XP_011522920.1:p.Gln373Ter | |
| XR_243646.2:n.1147C>T | ||
| XM_005257229.4:c.1117C>T | XP_005257286.1:p.Gln373Ter | |
| XR_243646.4:n.1153C>T | ||
| NM_207346.3:c.1117C>T MANE Select | NP_997229.2:p.Gln373Ter |