Linked Data
ClinVar Variation Id:
2069428
ClinVar RCV Id:
RCV002962162
MyVariant Identifiers:
chr9:g.26905779G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905781G>A , CM000671.2:g.26905781G>A | GRCh38 |
| NC_000009.11:g.26905779G>A , CM000671.1:g.26905779G>A | GRCh37 |
| NC_000009.10:g.26895779G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.2118C>T MANE Select | ENSP00000380460.3:p.Ala706= | |
| ENST00000397292.7:c.2118C>T | ENSP00000380460.3:p.Ala706= | |
| NM_001031689.2:c.2118C>T | NP_001026859.1:p.Ala706= | |
| XM_011518071.1:c.2049C>T | XP_011516373.1:p.Ala683= | |
| NM_001321546.1:c.2049C>T | NP_001308475.1:p.Ala683= | |
| XR_001746420.2:n.2423C>T | ||
| NM_001031689.3:c.2118C>T MANE Select | NP_001026859.1:p.Ala706= | |
| NM_001321546.2:c.2049C>T | NP_001308475.1:p.Ala683= |