Linked Data
ClinVar Variation Id:
423658
ClinVar RCV Id:
RCV000479611
dbSNP Id:
rs1064796558
gnomAD v4:
X-139819340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139819340G>A , CM000685.2:g.139819340G>A | GRCh38 |
| NC_000023.10:g.138901499G>A , CM000685.1:g.138901499G>A | GRCh37 |
| NC_000023.9:g.138729165G>A | NCBI36 |
| NG_016550.1:g.17949C>T | |
| NG_016550.2:g.118744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422228.2:c.235C>T | ENSP00000394573.2:p.Gln79Ter | |
| ENST00000682941.1:c.235C>T MANE Select | ENSP00000507250.1:p.Gln79Ter | |
| ENST00000327569.7:c.244C>T | ENSP00000332756.3:p.Gln82Ter | |
| ENST00000361648.6:c.244C>T | ENSP00000355165.2:p.Gln82Ter | |
| ENST00000370557.5:c.235C>T | ENSP00000359588.1:p.Gln79Ter | |
| ENST00000485626.1:n.285C>T | ||
| NM_001010986.2:c.244C>T | NP_001010986.1:p.Gln82Ter | |
| NM_173694.4:c.244C>T | NP_775965.2:p.Gln82Ter | |
| XM_011531320.1:c.307C>T | XP_011529622.1:p.Gln103Ter | |
| XM_011531321.1:c.307C>T | XP_011529623.1:p.Gln103Ter | |
| XM_011531322.1:c.307C>T | XP_011529624.1:p.Gln103Ter | |
| XM_011531323.1:c.307C>T | XP_011529625.1:p.Gln103Ter | |
| XM_011531324.1:c.235C>T | XP_011529626.1:p.Gln79Ter | |
| XM_011531325.1:c.307C>T | XP_011529627.1:p.Gln103Ter | |
| XM_011531326.1:c.307C>T | XP_011529628.1:p.Gln103Ter | |
| XM_011531327.1:c.217C>T | XP_011529629.1:p.Gln73Ter | |
| NM_001353810.1:c.235C>T | NP_001340739.1:p.Gln79Ter | |
| NM_001353811.1:c.235C>T | NP_001340740.1:p.Gln79Ter | |
| NM_001353812.1:c.235C>T | NP_001340741.1:p.Gln79Ter | |
| XM_017029439.2:c.244C>T | XP_016884928.1:p.Gln82Ter | |
| XM_017029440.2:c.235C>T | XP_016884929.1:p.Gln79Ter | |
| XM_017029441.1:c.235C>T | XP_016884930.1:p.Gln79Ter | |
| XM_017029442.1:c.217C>T | XP_016884931.1:p.Gln73Ter | |
| XM_017029443.2:c.244C>T | XP_016884932.1:p.Gln82Ter | |
| XM_017029445.2:c.244C>T | XP_016884934.1:p.Gln82Ter | |
| XM_017029446.2:c.244C>T | XP_016884935.1:p.Gln82Ter | |
| XM_017029448.1:c.-429C>T | XP_016884937.1:n.-429C>T | |
| XM_017029449.1:c.-561C>T | XP_016884938.1:n.-561C>T | |
| XR_001755683.2:n.294C>T | ||
| XR_001755684.2:n.1205C>T | ||
| XR_001755685.1:n.625C>T | ||
| XR_002958774.1:n.296C>T | ||
| NM_001010986.3:c.244C>T | NP_001010986.2:p.Gln82Ter | |
| NM_001353810.2:c.235C>T | NP_001340739.2:p.Gln79Ter | |
| NM_001353811.2:c.235C>T | NP_001340740.2:p.Gln79Ter | |
| NM_001353812.2:c.235C>T MANE Select | NP_001340741.2:p.Gln79Ter | |
| NM_173694.5:c.244C>T | NP_775965.3:p.Gln82Ter |