Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16128055G>A , CM000681.2:g.16128055G>A | GRCh38 |
| NC_000019.9:g.16238865G>A , CM000681.1:g.16238865G>A | GRCh37 |
| NC_000019.8:g.16099865G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300935.8:c.444G>A MANE Select | ENSP00000300935.2:p.Met148Ile | |
| ENST00000300935.7:c.444G>A | ENSP00000300935.2:p.Met148Ile | |
| ENST00000586682.1:c.444G>A | ENSP00000467501.1:p.Met148Ile | |
| ENST00000592971.1:n.105G>A | ||
| NM_005370.4:c.444G>A | NP_005361.2:p.Met148Ile | |
| XM_011528020.1:c.444G>A | XP_011526322.1:p.Met148Ile | |
| XM_011528020.3:c.444G>A | XP_011526322.1:p.Met148Ile | |
| NM_005370.5:c.444G>A MANE Select | NP_005361.2:p.Met148Ile |