Linked Data
dbSNP Id:
rs746328622
ExAC:
X:22112135 C / G
gnomAD v2:
X-22112135-C-G
gnomAD v4:
X-22094017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22094017C>G , CM000685.2:g.22094017C>G | GRCh38 |
| NC_000023.10:g.22112135C>G , CM000685.1:g.22112135C>G | GRCh37 |
| NC_000023.9:g.22022056C>G | NCBI36 |
| NG_007563.2:g.66215C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1193C>G | ||
| ENST00000684143.1:c.764C>G | ENSP00000508264.1:p.Thr255Ser | |
| ENST00000684745.1:n.441C>G | ||
| ENST00000379374.5:c.767C>G MANE Select | ENSP00000368682.4:p.Thr256Ser | |
| ENST00000379374.4:c.767C>G | ENSP00000368682.4:p.Thr256Ser | |
| ENST00000475778.1:n.40C>G | ||
| NM_000444.5:c.767C>G | NP_000435.3:p.Thr256Ser | |
| NM_001282754.1:c.767C>G | NP_001269683.1:p.Thr256Ser | |
| XM_011545533.1:c.11C>G | XP_011543835.1:p.Thr4Ser | |
| XM_011545534.1:c.11C>G | XP_011543836.1:p.Thr4Ser | |
| XM_011545535.1:c.767C>G | XP_011543837.1:p.Thr256Ser | |
| XM_017029579.1:c.11C>G | XP_016885068.1:p.Thr4Ser | |
| XM_024452390.1:c.476C>G | XP_024308158.1:p.Thr159Ser | |
| XR_001755695.1:n.1446C>G | ||
| NM_000444.6:c.767C>G MANE Select | NP_000435.3:p.Thr256Ser | |
| NM_001282754.2:c.767C>G | NP_001269683.1:p.Thr256Ser |