Linked Data
dbSNP Id:
rs781997631
ExAC:
X:148585736 A / G
gnomAD v2:
X-148585736-A-G
gnomAD v4:
X-149504206-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149504206A>G , CM000685.2:g.149504206A>G | GRCh38 |
| NC_000023.10:g.148585736A>G , CM000685.1:g.148585736A>G | GRCh37 |
| NC_000023.9:g.148393640A>G | NCBI36 |
| NG_011900.3:g.6129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.191T>C MANE Select | ENSP00000339801.6:p.Ile64Thr | |
| ENST00000651111.1:c.-215-3169T>C | ENSP00000498395.1:n.-215-3169T>C | |
| ENST00000340855.10:c.191T>C | ENSP00000339801.6:p.Ile64Thr | |
| ENST00000370441.8:c.191T>C | ENSP00000359470.4:p.Ile64Thr | |
| ENST00000422081.6:c.-215-3169T>C | ENSP00000477056.1:n.-215-3169T>C | |
| ENST00000427113.2:n.770-1983T>C | ||
| ENST00000428056.6:c.191T>C | ENSP00000390241.2:p.Ile64Thr | |
| ENST00000441880.1:n.114-17108T>C | ||
| ENST00000464251.5:c.14T>C | ENSP00000428980.1:p.Ile5Thr | |
| ENST00000466323.5:c.191T>C | ENSP00000418264.1:p.Ile64Thr | |
| ENST00000521702.1:c.191T>C | ENSP00000429745.1:p.Ile64Thr | |
| ENST00000523759.5:n.533-3169T>C | ||
| NM_000202.6:c.191T>C | NP_000193.1:p.Ile64Thr | |
| NM_001166550.2:c.-36T>C | NP_001160022.1:n.-36T>C | |
| NM_006123.4:c.191T>C | NP_006114.1:p.Ile64Thr | |
| NR_104128.1:n.408T>C | ||
| NM_000202.7:c.191T>C | NP_000193.1:p.Ile64Thr | |
| NM_001166550.3:c.-36T>C | NP_001160022.1:n.-36T>C | |
| NM_000202.8:c.191T>C MANE Select | NP_000193.1:p.Ile64Thr | |
| NM_001166550.4:c.-36T>C | NP_001160022.1:n.-36T>C | |
| NM_006123.5:c.191T>C | NP_006114.1:p.Ile64Thr | |
| NR_104128.2:n.360T>C |