Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814116C>A , CM000671.2:g.129814116C>A | GRCh38 |
| NC_000009.11:g.132576395C>A , CM000671.1:g.132576395C>A | GRCh37 |
| NC_000009.10:g.131616216C>A | NCBI36 |
| NG_008049.1:g.15047G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.855G>T MANE Select | ENSP00000345719.4:p.Met285Ile | |
| ENST00000651202.1:c.*123G>T | ENSP00000498222.1:n.*123G>T | |
| ENST00000351698.4:c.855G>T | ENSP00000345719.4:p.Met285Ile | |
| ENST00000474192.1:n.439G>T | ||
| NM_000113.2:c.855G>T | NP_000104.1:p.Met285Ile | |
| XR_929731.1:n.1182G>T | ||
| XR_929731.3:n.1050G>T | ||
| NM_000113.3:c.855G>T MANE Select | NP_000104.1:p.Met285Ile |