Linked Data
dbSNP Id:
rs775900503
ExAC:
X:70073182 G / C
gnomAD v2:
X-70073182-G-C
gnomAD v4:
X-70853332-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70853332G>C , CM000685.2:g.70853332G>C | GRCh38 |
| NC_000023.10:g.70073182G>C , CM000685.1:g.70073182G>C | GRCh37 |
| NC_000023.9:g.69989907G>C | NCBI36 |
| NG_012574.1:g.60386C>G | |
| NG_012574.2:g.60386C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374333.7:c.325-4C>G MANE Select | ENSP00000363453.2:n.325-4C>G | |
| ENST00000344304.3:c.370-4C>G | ENSP00000340995.3:n.370-4C>G | |
| ENST00000374333.6:c.325-4C>G | ENSP00000363453.2:n.325-4C>G | |
| ENST00000395889.6:c.370-4C>G | ENSP00000379226.2:n.370-4C>G | |
| NM_001003811.1:c.370-4C>G | NP_001003811.1:n.370-4C>G | |
| NM_031276.2:c.325-4C>G | NP_112566.2:n.325-4C>G | |
| XM_011530994.1:c.325-4C>G | XP_011529296.1:n.325-4C>G | |
| XM_017029649.1:c.325-4C>G | XP_016885138.1:n.325-4C>G | |
| NM_001003811.2:c.370-4C>G | NP_001003811.1:n.370-4C>G | |
| NM_031276.3:c.325-4C>G MANE Select | NP_112566.2:n.325-4C>G |