Linked Data
ClinVar Variation Id:
1409334
ClinVar RCV Id:
RCV001913609
dbSNP Id:
rs2131361023
gnomAD v4:
9-26905819-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905819T>G , CM000671.2:g.26905819T>G | GRCh38 |
| NC_000009.11:g.26905817T>G , CM000671.1:g.26905817T>G | GRCh37 |
| NC_000009.10:g.26895817T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.2080A>C MANE Select | ENSP00000380460.3:p.Ser694Arg | |
| ENST00000397292.7:c.2080A>C | ENSP00000380460.3:p.Ser694Arg | |
| NM_001031689.2:c.2080A>C | NP_001026859.1:p.Ser694Arg | |
| XM_011518071.1:c.2011A>C | XP_011516373.1:p.Ser671Arg | |
| NM_001321546.1:c.2011A>C | NP_001308475.1:p.Ser671Arg | |
| XR_001746420.2:n.2385A>C | ||
| NM_001031689.3:c.2080A>C MANE Select | NP_001026859.1:p.Ser694Arg | |
| NM_001321546.2:c.2011A>C | NP_001308475.1:p.Ser671Arg |