Linked Data
ClinVar Variation Id:
1767093
ClinVar RCV Id:
RCV002443513
dbSNP Id:
rs782261642
ExAC:
X:148571904 C / G
gnomAD v2:
X-148571904-C-G
gnomAD v3:
X-149490373-C-G
gnomAD v4:
X-149490373-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490373C>G , CM000685.2:g.149490373C>G | GRCh38 |
| NC_000023.10:g.148571904C>G , CM000685.1:g.148571904C>G | GRCh37 |
| NC_000023.9:g.148379809C>G | NCBI36 |
| NG_011900.3:g.19962G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.947G>C MANE Select | ENSP00000339801.6:p.Ser316Thr | |
| ENST00000651111.1:c.314G>C | ENSP00000498395.1:p.Ser105Thr | |
| ENST00000340855.10:c.947G>C | ENSP00000339801.6:p.Ser316Thr | |
| ENST00000370441.8:c.947G>C | ENSP00000359470.4:p.Ser316Thr | |
| ENST00000422081.6:c.314G>C | ENSP00000477056.1:p.Ser105Thr | |
| ENST00000441880.1:n.114-3275G>C | ||
| ENST00000464251.5:c.873G>C | ENSP00000428980.1:n.873G>C | |
| ENST00000466323.5:c.*138G>C | ENSP00000418264.1:n.*138G>C | |
| ENST00000490775.5:n.732G>C | ||
| NM_000202.6:c.947G>C | NP_000193.1:p.Ser316Thr | |
| NM_001166550.2:c.677G>C | NP_001160022.1:p.Ser226Thr | |
| NM_006123.4:c.947G>C | NP_006114.1:p.Ser316Thr | |
| NR_104128.1:n.1294G>C | ||
| NM_000202.7:c.947G>C | NP_000193.1:p.Ser316Thr | |
| NM_001166550.3:c.677G>C | NP_001160022.1:p.Ser226Thr | |
| NM_000202.8:c.947G>C MANE Select | NP_000193.1:p.Ser316Thr | |
| NM_001166550.4:c.677G>C | NP_001160022.1:p.Ser226Thr | |
| NM_006123.5:c.947G>C | NP_006114.1:p.Ser316Thr | |
| NR_104128.2:n.1246G>C |