Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214460G>C , CM000681.2:g.9214460G>C | GRCh38 |
| NC_000019.9:g.9325136G>C , CM000681.1:g.9325136G>C | GRCh37 |
| NC_000019.8:g.9186136G>C | NCBI36 |
| NG_027953.1:g.5412C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.378C>G | ENSP00000493404.1:p.Ile126Met | |
| ENST00000641669.1:c.378C>G MANE Select | ENSP00000493383.1:p.Ile126Met | |
| ENST00000308682.3:c.378C>G | ENSP00000310488.2:p.Ile126Met | |
| NM_001005191.2:c.378C>G | NP_001005191.1:p.Ile126Met | |
| NM_001005191.3:c.378C>G MANE Select | NP_001005191.1:p.Ile126Met |