Linked Data
ClinVar Variation Id:
3105974
ClinVar RCV Id:
RCV004397294
dbSNP Id:
rs781948063
ExAC:
X:49957466 A / C
gnomAD v2:
X-49957466-A-C
gnomAD v3:
X-50192815-A-C
gnomAD v4:
X-50192815-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192815A>C , CM000685.2:g.50192815A>C | GRCh38 |
| NC_000023.10:g.49957466A>C , CM000685.1:g.49957466A>C | GRCh37 |
| NC_000023.9:g.49844206A>C | NCBI36 |
| NG_012552.1:g.13199T>G | |
| NG_012552.2:g.13199T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1898T>G MANE Select | ENSP00000351327.2:p.Leu633Arg | |
| ENST00000358526.6:c.1898T>G | ENSP00000351327.2:p.Leu633Arg | |
| ENST00000376064.7:c.1871T>G | ENSP00000365232.3:p.Leu624Arg | |
| ENST00000481402.5:n.2010T>G | ||
| NM_003886.2:c.1898T>G | NP_003877.2:p.Leu633Arg | |
| NM_139289.1:c.1871T>G | NP_647450.1:p.Leu624Arg | |
| NM_003886.3:c.1898T>G MANE Select | NP_003877.2:p.Leu633Arg | |
| NM_139289.2:c.1871T>G | NP_647450.1:p.Leu624Arg |