Linked Data
ClinVar Variation Id:
1098526
ClinVar RCV Id:
RCV001420460
dbSNP Id:
rs2123996340
gnomAD v4:
X-154904041-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904041G>C , CM000685.2:g.154904041G>C | GRCh38 |
| NC_000023.10:g.154132316G>C , CM000685.1:g.154132316G>C | GRCh37 |
| NC_000023.9:g.153785510G>C | NCBI36 |
| NG_011403.1:g.123683C>G | |
| NG_011403.2:g.123683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5863C>G MANE Select | ENSP00000353393.4:p.Gln1955Glu | |
| ENST00000360256.8:c.5863C>G | ENSP00000353393.4:p.Gln1955Glu | |
| NM_000132.3:c.5863C>G | NP_000123.1:p.Gln1955Glu | |
| XM_011531126.1:c.5758C>G | XP_011529428.1:p.Gln1920Glu | |
| NM_000132.4:c.5863C>G MANE Select | NP_000123.1:p.Gln1955Glu |