Linked Data
ClinVar Variation Id:
11439
dbSNP Id:
rs104894963
ExAC:
X:136649499 C / G
gnomAD v2:
X-136649499-C-G
gnomAD v3:
X-137567340-C-G
gnomAD v4:
X-137567340-C-G
COSMIC:
COSM32555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567340C>G , CM000685.2:g.137567340C>G | GRCh38 |
| NC_000023.10:g.136649499C>G , CM000685.1:g.136649499C>G | GRCh37 |
| NC_000023.9:g.136477165C>G | NCBI36 |
| NG_008115.1:g.6154C>G | |
| NG_008115.2:g.6214C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287538.10:c.649C>G MANE Select | ENSP00000287538.5:p.Pro217Ala | |
| ENST00000287538.9:c.649C>G | ENSP00000287538.5:p.Pro217Ala | |
| ENST00000370606.3:c.649C>G | ENSP00000359638.3:p.Pro217Ala | |
| NM_003413.3:c.649C>G | NP_003404.1:p.Pro217Ala | |
| NM_001330661.1:c.649C>G | NP_001317590.1:p.Pro217Ala | |
| NM_003413.4:c.649C>G MANE Select | NP_003404.1:p.Pro217Ala |