Linked Data
dbSNP Id:
rs747078429
ExAC:
X:30326418 C / T
gnomAD v2:
X-30326418-C-T
gnomAD v4:
X-30308301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308301C>T , CM000685.2:g.30308301C>T | GRCh38 |
| NC_000023.10:g.30326418C>T , CM000685.1:g.30326418C>T | GRCh37 |
| NC_000023.9:g.30236339C>T | NCBI36 |
| NG_009814.1:g.6078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1063G>A MANE Select | ENSP00000368253.4:p.Ala355Thr | |
| ENST00000378963.1:c.178G>A | ENSP00000368246.1:p.Ala60Thr | |
| ENST00000378970.4:c.1063G>A | ENSP00000368253.4:p.Ala355Thr | |
| NM_000475.4:c.1063G>A | NP_000466.2:p.Ala355Thr | |
| NM_000475.5:c.1063G>A MANE Select | NP_000466.2:p.Ala355Thr |