Linked Data
MyVariant Identifiers:
chr9:g.132584956T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822677T>G , CM000671.2:g.129822677T>G | GRCh38 |
| NC_000009.11:g.132584956T>G , CM000671.1:g.132584956T>G | GRCh37 |
| NC_000009.10:g.131624777T>G | NCBI36 |
| NG_008049.1:g.6486A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.348A>C MANE Select | ENSP00000345719.4:p.Ala116= | |
| ENST00000651202.1:c.444A>C | ENSP00000498222.1:p.Ala148= | |
| ENST00000351698.4:c.348A>C | ENSP00000345719.4:p.Ala116= | |
| ENST00000473084.1:n.367A>C | ||
| ENST00000473604.2:n.458A>C | ||
| NM_000113.2:c.348A>C | NP_000104.1:p.Ala116= | |
| XR_929731.1:n.508A>C | ||
| XR_929731.3:n.376A>C | ||
| NM_000113.3:c.348A>C MANE Select | NP_000104.1:p.Ala116= |