Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39243961C>T , CM000684.2:g.39243961C>T | GRCh38 |
| NC_000022.10:g.39639966C>T , CM000684.1:g.39639966C>T | GRCh37 |
| NC_000022.9:g.37969912C>T | NCBI36 |
| NG_012111.1:g.5992G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002608.4:c.3G>A MANE Select | NP_002599.1:p.Met1Ile |
| ENST00000331163.11:c.3G>A MANE Select | ENSP00000330382.6:p.Met1Ile |
| NM_002608.2:c.3G>A | NP_002599.1:p.Met1Ile |
| NM_002608.3:c.3G>A | NP_002599.1:p.Met1Ile |
| ENST00000331163.10:c.3G>A | ENSP00000330382.6:p.Met1Ile |