Linked Data
ClinVar Variation Id:
1956047
ClinVar RCV Id:
RCV002700543
dbSNP Id:
rs1209895023
gnomAD v2:
20-10620322-T-C
gnomAD v4:
20-10639674-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639674T>C , CM000682.2:g.10639674T>C | GRCh38 |
| NC_000020.10:g.10620322T>C , CM000682.1:g.10620322T>C | GRCh37 |
| NC_000020.9:g.10568322T>C | NCBI36 |
| NG_007496.1:g.39373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3481A>G MANE Select | ENSP00000254958.4:p.Met1161Val | |
| ENST00000254958.9:c.3481A>G | ENSP00000254958.4:p.Met1161Val | |
| ENST00000423891.6:n.3347A>G | ||
| NM_000214.2:c.3481A>G | NP_000205.1:p.Met1161Val | |
| NM_000214.3:c.3481A>G MANE Select | NP_000205.1:p.Met1161Val |