Linked Data
dbSNP Id:
rs773543388
ExAC:
X:30322687 C / A
gnomAD v2:
X-30322687-C-A
gnomAD v4:
X-30304570-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304570C>A , CM000685.2:g.30304570C>A | GRCh38 |
| NC_000023.10:g.30322687C>A , CM000685.1:g.30322687C>A | GRCh37 |
| NC_000023.9:g.30232608C>A | NCBI36 |
| NG_009814.1:g.9809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*9G>T MANE Select | ENSP00000368253.4:n.*9G>T | |
| ENST00000378970.4:c.*9G>T | ENSP00000368253.4:n.*9G>T | |
| NM_000475.4:c.*9G>T | NP_000466.2:n.*9G>T | |
| NM_000475.5:c.*9G>T MANE Select | NP_000466.2:n.*9G>T |