Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71130217C>T , CM000664.2:g.71130217C>T | GRCh38 |
| NC_000002.11:g.71357347C>T , CM000664.1:g.71357347C>T | GRCh37 |
| NC_000002.10:g.71210855C>T | NCBI36 |
| NG_008977.1:g.5048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.3G>A MANE Select | ENSP00000244217.5:p.Met1Ile | |
| ENST00000244217.5:c.3G>A | ENSP00000244217.5:p.Met1Ile | |
| ENST00000486135.1:c.-384G>A | ENSP00000441569.1:n.-384G>A | |
| NM_032601.3:c.3G>A | NP_115990.3:p.Met1Ile | |
| XM_005264613.2:c.3G>A | XP_005264670.1:p.Met1Ile | |
| XR_939729.1:n.72G>A | ||
| XR_939729.2:n.72G>A | ||
| NM_032601.4:c.3G>A MANE Select | NP_115990.3:p.Met1Ile |