Linked Data
ClinVar Variation Id:
2090780
ClinVar RCV Id:
RCV003013280
MyVariant Identifiers:
chr9:g.26905851T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905853T>A , CM000671.2:g.26905853T>A | GRCh38 |
| NC_000009.11:g.26905851T>A , CM000671.1:g.26905851T>A | GRCh37 |
| NC_000009.10:g.26895851T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.2046A>T MANE Select | ENSP00000380460.3:p.Ser682= | |
| ENST00000397292.7:c.2046A>T | ENSP00000380460.3:p.Ser682= | |
| NM_001031689.2:c.2046A>T | NP_001026859.1:p.Ser682= | |
| XM_011518071.1:c.1977A>T | XP_011516373.1:p.Ser659= | |
| NM_001321546.1:c.1977A>T | NP_001308475.1:p.Ser659= | |
| XR_001746420.2:n.2351A>T | ||
| NM_001031689.3:c.2046A>T MANE Select | NP_001026859.1:p.Ser682= | |
| NM_001321546.2:c.1977A>T | NP_001308475.1:p.Ser659= |