Linked Data
ClinVar Variation Id:
2416553
ClinVar RCV Id:
RCV003107302
dbSNP Id:
rs866577498
gnomAD v4:
8-27463140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463140T>C , CM000670.2:g.27463140T>C | GRCh38 |
| NC_000008.10:g.27320657T>C , CM000670.1:g.27320657T>C | GRCh37 |
| NC_000008.9:g.27376574T>C | NCBI36 |
| NG_015827.1:g.21157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1303A>G MANE Select | ENSP00000385026.1:p.Thr435Ala | |
| ENST00000240132.7:c.1258A>G | ENSP00000240132.2:p.Thr420Ala | |
| ENST00000407991.2:c.1303A>G | ENSP00000385026.1:p.Thr435Ala | |
| ENST00000520600.1:n.290-1386A>G | ||
| ENST00000520933.7:c.1237A>G | ENSP00000429616.2:p.Thr413Ala | |
| ENST00000523695.5:c.*705A>G | ENSP00000430612.1:n.*705A>G | |
| NM_000742.3:c.1303A>G | NP_000733.2:p.Thr435Ala | |
| NM_001282455.1:c.1258A>G | NP_001269384.1:p.Thr420Ala | |
| XM_005273397.1:c.826A>G | XP_005273454.1:p.Thr276Ala | |
| XM_006716282.1:c.1303A>G | XP_006716345.1:p.Thr435Ala | |
| XM_011544388.1:c.1303A>G | XP_011542690.1:p.Thr435Ala | |
| XM_011544389.1:c.709A>G | XP_011542691.1:p.Thr237Ala | |
| NM_001347705.1:c.826A>G | NP_001334634.1:p.Thr276Ala | |
| NM_001347706.1:c.826A>G | NP_001334635.1:p.Thr276Ala | |
| NM_001347707.1:c.709A>G | NP_001334636.1:p.Thr237Ala | |
| NM_001347708.1:c.709A>G | NP_001334637.1:p.Thr237Ala | |
| XM_011544389.2:c.709A>G | XP_011542691.1:p.Thr237Ala | |
| NM_000742.4:c.1303A>G MANE Select | NP_000733.2:p.Thr435Ala | |
| NM_001282455.2:c.1258A>G | NP_001269384.1:p.Thr420Ala | |
| NM_001347705.2:c.826A>G | NP_001334634.1:p.Thr276Ala | |
| NM_001347706.2:c.826A>G | NP_001334635.1:p.Thr276Ala | |
| NM_001347707.2:c.709A>G | NP_001334636.1:p.Thr237Ala | |
| NM_001347708.2:c.709A>G | NP_001334637.1:p.Thr237Ala |