Linked Data
ClinVar Variation Id:
130384
ClinVar RCV Id:
RCV000118424
dbSNP Id:
rs587780468
gnomAD v4:
X-47574363-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574363C>G , CM000685.2:g.47574363C>G | GRCh38 |
| NC_000023.10:g.47433762C>G , CM000685.1:g.47433762C>G | GRCh37 |
| NC_000023.9:g.47318706C>G | NCBI36 |
| NG_008437.1:g.50495G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1621G>C MANE Select | ENSP00000295987.7:p.Gly541Arg | |
| ENST00000340666.5:c.1621G>C | ENSP00000343206.4:p.Gly541Arg | |
| ENST00000640721.1:c.70+325G>C | ENSP00000492857.1:n.70+325G>C | |
| ENST00000295987.11:c.1621G>C | ENSP00000295987.7:p.Gly541Arg | |
| ENST00000340666.4:c.1621G>C | ENSP00000343206.4:p.Gly541Arg | |
| NM_006950.3:c.1621G>C MANE Select | NP_008881.2:p.Gly541Arg | |
| NM_133499.2:c.1621G>C | NP_598006.1:p.Gly541Arg |