Linked Data
ClinVar Variation Id:
2136181
ClinVar RCV Id:
RCV003037043
dbSNP Id:
rs1931355457
gnomAD v4:
X-137566995-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566995C>G , CM000685.2:g.137566995C>G | GRCh38 |
| NC_000023.10:g.136649154C>G , CM000685.1:g.136649154C>G | GRCh37 |
| NC_000023.9:g.136476820C>G | NCBI36 |
| NG_008115.1:g.5809C>G | |
| NG_008115.2:g.5869C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.304C>G MANE Select | ENSP00000287538.5:p.Pro102Ala | |
| ENST00000287538.9:c.304C>G | ENSP00000287538.5:p.Pro102Ala | |
| ENST00000370606.3:c.304C>G | ENSP00000359638.3:p.Pro102Ala | |
| NM_003413.3:c.304C>G | NP_003404.1:p.Pro102Ala | |
| NM_001330661.1:c.304C>G | NP_001317590.1:p.Pro102Ala | |
| NM_003413.4:c.304C>G MANE Select | NP_003404.1:p.Pro102Ala |