Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818884C>G , CM000671.2:g.129818884C>G | GRCh38 |
| NC_000009.11:g.132581163C>G , CM000671.1:g.132581163C>G | GRCh37 |
| NC_000009.10:g.131620984C>G | NCBI36 |
| NG_008049.1:g.10279G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.481G>C MANE Select | ENSP00000345719.4:p.Ala161Pro | |
| ENST00000651202.1:c.577G>C | ENSP00000498222.1:p.Ala193Pro | |
| ENST00000351698.4:c.481G>C | ENSP00000345719.4:p.Ala161Pro | |
| ENST00000473604.2:n.591G>C | ||
| NM_000113.2:c.481G>C | NP_000104.1:p.Ala161Pro | |
| XR_929731.1:n.641G>C | ||
| XR_929731.3:n.509G>C | ||
| NM_000113.3:c.481G>C MANE Select | NP_000104.1:p.Ala161Pro |