Linked Data
ClinVar Variation Id:
1139832
ClinVar RCV Id:
RCV001476670
dbSNP Id:
rs1198119577
gnomAD v2:
X-19369440-A-G
gnomAD v4:
X-19351322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351322A>G , CM000685.2:g.19351322A>G | GRCh38 |
| NC_000023.10:g.19369440A>G , CM000685.1:g.19369440A>G | GRCh37 |
| NC_000023.9:g.19279361A>G | NCBI36 |
| NG_016781.1:g.12430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.354A>G | ENSP00000348062.6:p.Thr118= | |
| ENST00000379805.4:c.333A>G | ENSP00000369133.3:p.Thr111= | |
| ENST00000417819.6:c.417A>G | ENSP00000404616.2:p.Thr139= | |
| ENST00000423505.6:c.447A>G | ENSP00000406473.2:p.Thr149= | |
| ENST00000696704.1:c.333A>G | ENSP00000512823.1:p.Thr111= | |
| ENST00000696705.1:c.333A>G | ENSP00000512824.1:p.Thr111= | |
| ENST00000422285.7:c.333A>G MANE Select | ENSP00000394382.2:p.Thr111= | |
| ENST00000355808.9:c.354A>G | ENSP00000348062.5:p.Thr118= | |
| ENST00000379805.3:c.333A>G | ENSP00000369133.3:p.Thr111= | |
| ENST00000379806.9:c.447A>G | ENSP00000369134.5:p.Thr149= | |
| ENST00000422285.6:c.333A>G | ENSP00000394382.2:p.Thr111= | |
| ENST00000423505.5:c.447A>G | ENSP00000406473.1:p.Thr149= | |
| ENST00000492364.1:n.435A>G | ||
| ENST00000540249.5:c.333A>G | ENSP00000440761.1:p.Thr111= | |
| ENST00000545074.5:c.354A>G | ENSP00000438550.1:p.Thr118= | |
| NM_000284.3:c.333A>G | NP_000275.1:p.Thr111= | |
| NM_001173454.1:c.447A>G | NP_001166925.1:p.Thr149= | |
| NM_001173455.1:c.354A>G | NP_001166926.1:p.Thr118= | |
| NM_001173456.1:c.333A>G | NP_001166927.1:p.Thr111= | |
| XM_011545531.1:c.468A>G | XP_011543833.1:p.Thr156= | |
| XM_011545532.1:c.468A>G | XP_011543834.1:p.Thr156= | |
| XM_017029574.2:c.447A>G | XP_016885063.1:p.Thr149= | |
| NM_000284.4:c.333A>G MANE Select | NP_000275.1:p.Thr111= | |
| NM_001173454.2:c.447A>G | NP_001166925.1:p.Thr149= | |
| NM_001173455.2:c.354A>G | NP_001166926.1:p.Thr118= | |
| NM_001173456.2:c.333A>G | NP_001166927.1:p.Thr111= |