Linked Data
ClinVar Variation Id:
2165639
ClinVar RCV Id:
RCV003084472
dbSNP Id:
rs777913899
ExAC:
17:45299095 C / T
gnomAD v2:
17-45299095-C-T
gnomAD v4:
17-47221729-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221729C>T , CM000679.2:g.47221729C>T | GRCh38 |
| NC_000017.10:g.45299095C>T , CM000679.1:g.45299095C>T | GRCh37 |
| NC_000017.9:g.42654094C>T | NCBI36 |
| NG_052847.1:g.17713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.361C>T | ENSP00000347055.1:p.Gln121Ter | |
| ENST00000393450.5:c.361C>T MANE Select | ENSP00000377096.1:p.Gln121Ter | |
| ENST00000536623.6:c.361C>T | ENSP00000442375.2:p.Gln121Ter | |
| ENST00000570671.1:c.72C>T | ||
| ENST00000570772.5:c.*147C>T | ENSP00000458194.1:n.*147C>T | |
| ENST00000571981.5:c.*147C>T | ENSP00000459035.1:n.*147C>T | |
| ENST00000572303.1:c.454C>T | ENSP00000461747.1:p.Gln152Ter | |
| ENST00000572316.5:c.361C>T | ENSP00000461570.1:p.Gln121Ter | |
| ENST00000573747.6:c.314-3C>T | ENSP00000460734.1:n.314-3C>T | |
| ENST00000576874.5:c.361C>T | ENSP00000458907.1:p.Gln121Ter | |
| NM_001002841.1:c.361C>T | NP_001002841.1:p.Gln121Ter | |
| NM_002476.2:c.361C>T MANE Select | NP_002467.1:p.Gln121Ter | |
| XM_005257391.3:c.361C>T | XP_005257448.1:p.Gln121Ter | |
| XM_011524838.1:c.361C>T | XP_011523140.1:p.Gln121Ter | |
| XM_011524839.1:c.151C>T | XP_011523141.1:p.Gln51Ter | |
| XM_005257391.5:c.361C>T | XP_005257448.1:p.Gln121Ter | |
| XM_011524839.2:c.454C>T | XP_011523141.2:p.Gln152Ter | |
| XM_017024683.1:c.454C>T | XP_016880172.1:p.Gln152Ter | |
| XM_024450766.1:c.454C>T | XP_024306534.1:p.Gln152Ter | |
| NM_001002841.2:c.361C>T | NP_001002841.1:p.Gln121Ter |