Linked Data
ClinVar Variation Id:
2004651
ClinVar RCV Id:
RCV002816245
dbSNP Id:
rs1828311185
gnomAD v4:
9-98541921-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541921C>G , CM000671.2:g.98541921C>G | GRCh38 |
| NC_000009.11:g.101304203C>G , CM000671.1:g.101304203C>G | GRCh37 |
| NC_000009.10:g.100344024C>G | NCBI36 |
| NG_016426.1:g.172277G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.582G>C MANE Select | ENSP00000259455.2:p.Gln194His | |
| ENST00000637410.1:n.360G>C | ||
| ENST00000637717.1:c.198G>C | ENSP00000490789.1:p.Gln66His | |
| ENST00000259455.3:c.582G>C | ENSP00000259455.2:p.Gln194His | |
| ENST00000477471.1:n.369G>C | ||
| ENST00000634227.1:n.356G>C | ||
| NM_005458.7:c.582G>C | NP_005449.5:p.Gln194His | |
| XM_017015331.2:c.288G>C | XP_016870820.1:p.Gln96His | |
| NM_005458.8:c.582G>C MANE Select | NP_005449.5:p.Gln194His |