Linked Data
dbSNP Id:
rs782118903
ExAC:
X:148584962 T / G
gnomAD v2:
X-148584962-T-G
gnomAD v4:
X-149503432-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149503432T>G , CM000685.2:g.149503432T>G | GRCh38 |
| NC_000023.10:g.148584962T>G , CM000685.1:g.148584962T>G | GRCh37 |
| NC_000023.9:g.148392867T>G | NCBI36 |
| NG_011900.3:g.6903A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.298A>C MANE Select | ENSP00000339801.6:p.Thr100Pro | |
| ENST00000651111.1:c.-215-2395A>C | ENSP00000498395.1:n.-215-2395A>C | |
| ENST00000340855.10:c.298A>C | ENSP00000339801.6:p.Thr100Pro | |
| ENST00000370441.8:c.298A>C | ENSP00000359470.4:p.Thr100Pro | |
| ENST00000422081.6:c.-215-2395A>C | ENSP00000477056.1:n.-215-2395A>C | |
| ENST00000427113.2:n.770-1209A>C | ||
| ENST00000428056.6:c.298A>C | ENSP00000390241.2:p.Thr100Pro | |
| ENST00000441880.1:n.114-16334A>C | ||
| ENST00000464251.5:c.121A>C | ENSP00000428980.1:p.Thr41Pro | |
| ENST00000466323.5:c.298A>C | ENSP00000418264.1:p.Thr100Pro | |
| ENST00000523759.5:n.533-2395A>C | ||
| NM_000202.6:c.298A>C | NP_000193.1:p.Thr100Pro | |
| NM_001166550.2:c.28A>C | NP_001160022.1:p.Thr10Pro | |
| NM_006123.4:c.298A>C | NP_006114.1:p.Thr100Pro | |
| NR_104128.1:n.515A>C | ||
| NM_000202.7:c.298A>C | NP_000193.1:p.Thr100Pro | |
| NM_001166550.3:c.28A>C | NP_001160022.1:p.Thr10Pro | |
| NM_000202.8:c.298A>C MANE Select | NP_000193.1:p.Thr100Pro | |
| NM_001166550.4:c.28A>C | NP_001160022.1:p.Thr10Pro | |
| NM_006123.5:c.298A>C | NP_006114.1:p.Thr100Pro | |
| NR_104128.2:n.467A>C |