Linked Data
dbSNP Id:
rs147525170
ExAC:
X:49957419 A / G
gnomAD v2:
X-49957419-A-G
gnomAD v3:
X-50192768-A-G
gnomAD v4:
X-50192768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192768A>G , CM000685.2:g.50192768A>G | GRCh38 |
| NC_000023.10:g.49957419A>G , CM000685.1:g.49957419A>G | GRCh37 |
| NC_000023.9:g.49844159A>G | NCBI36 |
| NG_012552.1:g.13246T>C | |
| NG_012552.2:g.13246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1945T>C MANE Select | ENSP00000351327.2:p.Cys649Arg | |
| ENST00000358526.6:c.1945T>C | ENSP00000351327.2:p.Cys649Arg | |
| ENST00000376064.7:c.1918T>C | ENSP00000365232.3:p.Cys640Arg | |
| ENST00000481402.5:n.2057T>C | ||
| NM_003886.2:c.1945T>C | NP_003877.2:p.Cys649Arg | |
| NM_139289.1:c.1918T>C | NP_647450.1:p.Cys640Arg | |
| NM_003886.3:c.1945T>C MANE Select | NP_003877.2:p.Cys649Arg | |
| NM_139289.2:c.1918T>C | NP_647450.1:p.Cys640Arg |