Linked Data
dbSNP Id:
rs1016100906
gnomAD v2:
X-22050992-T-A
gnomAD v3:
X-22032874-T-A
gnomAD v4:
X-22032874-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22032874T>A , CM000685.2:g.22032874T>A | GRCh38 |
| NC_000023.10:g.22050992T>A , CM000685.1:g.22050992T>A | GRCh37 |
| NC_000023.9:g.21960913T>A | NCBI36 |
| NG_007563.2:g.5072T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.295T>A | ||
| ENST00000683214.1:n.295T>A | ||
| ENST00000684143.1:c.-132T>A | ENSP00000508264.1:n.-132T>A | |
| ENST00000379374.5:c.-132T>A MANE Select | ENSP00000368682.4:n.-132T>A | |
| ENST00000379374.4:c.-132T>A | ENSP00000368682.4:n.-132T>A | |
| NM_000444.5:c.-132T>A | NP_000435.3:n.-132T>A | |
| NM_001282754.1:c.-132T>A | NP_001269683.1:n.-132T>A | |
| XM_011545535.1:c.-132T>A | XP_011543837.1:n.-132T>A | |
| XR_001755695.1:n.548T>A | ||
| NM_000444.6:c.-132T>A MANE Select | NP_000435.3:n.-132T>A | |
| NM_001282754.2:c.-132T>A | NP_001269683.1:n.-132T>A |