Linked Data
ClinVar Variation Id:
429491
ClinVar RCV Id:
RCV000493334
dbSNP Id:
rs1131691410
gnomAD v4:
X-25013444-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013444G>C , CM000685.2:g.25013444G>C | GRCh38 |
| NC_000023.10:g.25031561G>C , CM000685.1:g.25031561G>C | GRCh37 |
| NC_000023.9:g.24941482G>C | NCBI36 |
| NG_008281.1:g.7505C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.551C>G MANE Select | ENSP00000368332.4:p.Pro184Arg | |
| ENST00000379044.4:c.551C>G | ENSP00000368332.4:p.Pro184Arg | |
| NM_139058.2:c.551C>G | NP_620689.1:p.Pro184Arg | |
| NM_139058.3:c.551C>G MANE Select | NP_620689.1:p.Pro184Arg |