Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214595C>A , CM000681.2:g.9214595C>A | GRCh38 |
| NC_000019.9:g.9325271C>A , CM000681.1:g.9325271C>A | GRCh37 |
| NC_000019.8:g.9186271C>A | NCBI36 |
| NG_027953.1:g.5277G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.243G>T | ENSP00000493404.1:p.Met81Ile | |
| ENST00000641669.1:c.243G>T MANE Select | ENSP00000493383.1:p.Met81Ile | |
| ENST00000308682.3:c.243G>T | ENSP00000310488.2:p.Met81Ile | |
| NM_001005191.2:c.243G>T | NP_001005191.1:p.Met81Ile | |
| NM_001005191.3:c.243G>T MANE Select | NP_001005191.1:p.Met81Ile |