Linked Data
dbSNP Id:
rs1334562584
gnomAD v3:
X-49216337-G-C
gnomAD v4:
X-49216337-G-C
MyVariant Identifiers:
chrX:g.49216337G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216337G>C , CM000685.2:g.49216337G>C | GRCh38 |
| NC_000023.10:g.49072797G>C , CM000685.1:g.49072797G>C | GRCh37 |
| NC_000023.9:g.48959741G>C | NCBI36 |
| NG_009095.2:g.22030C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3236+45C>G MANE Select | ENSP00000321618.6:n.3236+45C>G | |
| ENST00000323022.9:c.3236+45C>G | ENSP00000321618.5:n.3236+45C>G | |
| ENST00000376251.5:c.3074+45C>G | ENSP00000365427.1:n.3074+45C>G | |
| ENST00000376265.2:c.3269+45C>G | ENSP00000365441.2:n.3269+45C>G | |
| NM_001256789.2:c.3236+45C>G | NP_001243718.1:n.3236+45C>G | |
| NM_001256790.2:c.3074+45C>G | NP_001243719.1:n.3074+45C>G | |
| NM_005183.3:c.3269+45C>G | NP_005174.2:n.3269+45C>G | |
| XM_011543983.1:c.3074+45C>G | XP_011542285.1:n.3074+45C>G | |
| XM_011543983.2:c.3074+45C>G | XP_011542285.1:n.3074+45C>G | |
| XM_017029836.1:c.503+45C>G | XP_016885325.1:n.503+45C>G | |
| NM_001256789.3:c.3236+45C>G MANE Select | NP_001243718.1:n.3236+45C>G | |
| NM_001256790.3:c.3074+45C>G | NP_001243719.1:n.3074+45C>G | |
| NM_005183.4:c.3269+45C>G | NP_005174.2:n.3269+45C>G |