Linked Data
dbSNP Id:
rs782467443
ExAC:
X:49957571 A / C
gnomAD v2:
X-49957571-A-C
gnomAD v3:
X-50192920-A-C
gnomAD v4:
X-50192920-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192920A>C , CM000685.2:g.50192920A>C | GRCh38 |
| NC_000023.10:g.49957571A>C , CM000685.1:g.49957571A>C | GRCh37 |
| NC_000023.9:g.49844311A>C | NCBI36 |
| NG_012552.1:g.13094T>G | |
| NG_012552.2:g.13094T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1793T>G MANE Select | ENSP00000351327.2:p.Val598Gly | |
| ENST00000358526.6:c.1793T>G | ENSP00000351327.2:p.Val598Gly | |
| ENST00000376064.7:c.1766T>G | ENSP00000365232.3:p.Val589Gly | |
| ENST00000481402.5:n.1905T>G | ||
| NM_003886.2:c.1793T>G | NP_003877.2:p.Val598Gly | |
| NM_139289.1:c.1766T>G | NP_647450.1:p.Val589Gly | |
| NM_003886.3:c.1793T>G MANE Select | NP_003877.2:p.Val598Gly | |
| NM_139289.2:c.1766T>G | NP_647450.1:p.Val589Gly |