Linked Data
dbSNP Id:
rs768981089
ExAC:
X:107683479 C / T
gnomAD v2:
X-107683479-C-T
gnomAD v4:
X-108440249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108440249C>T , CM000685.2:g.108440249C>T | GRCh38 |
| NC_000023.10:g.107683479C>T , CM000685.1:g.107683479C>T | GRCh37 |
| NC_000023.9:g.107570135C>T | NCBI36 |
| NG_011977.1:g.5326C>T | |
| NG_012059.2:g.4226G>A | |
| NG_011977.2:g.5326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.81+43C>T MANE Select | ENSP00000331902.7:n.81+43C>T | |
| ENST00000361603.7:c.81+43C>T | ENSP00000354505.2:n.81+43C>T | |
| ENST00000642185.1:c.81+43C>T | ENSP00000495101.1:n.81+43C>T | |
| ENST00000328300.10:c.81+43C>T | ENSP00000331902.6:n.81+43C>T | |
| ENST00000361603.6:c.81+43C>T | ENSP00000354505.2:n.81+43C>T | |
| ENST00000470339.1:n.265+43C>T | ||
| ENST00000477429.1:n.363+43C>T | ||
| NM_000495.4:c.81+43C>T | NP_000486.1:n.81+43C>T | |
| NM_033380.2:c.81+43C>T | NP_203699.1:n.81+43C>T | |
| XM_005262070.2:c.81+43C>T | XP_005262127.1:n.81+43C>T | |
| XM_005262072.3:c.81+43C>T | XP_005262129.1:n.81+43C>T | |
| XM_006724616.2:c.81+43C>T | XP_006724679.1:n.81+43C>T | |
| XM_011530850.1:c.81+43C>T | XP_011529152.1:n.81+43C>T | |
| NM_000495.5:c.81+43C>T | NP_000486.1:n.81+43C>T | |
| NM_033380.3:c.81+43C>T MANE Select | NP_203699.1:n.81+43C>T |