Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419596T>A , CM000676.2:g.23419596T>A | GRCh38 |
| NC_000014.8:g.23888805T>A , CM000676.1:g.23888805T>A | GRCh37 |
| NC_000014.7:g.22958645T>A | NCBI36 |
| NG_007884.1:g.21066A>T , LRG_384:g.21066A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3740A>T MANE Select | ENSP00000347507.3:p.Lys1247Met | |
| ENST00000355349.3:c.3740A>T | ENSP00000347507.3:p.Lys1247Met | |
| NM_000257.3:c.3740A>T | NP_000248.2:p.Lys1247Met | |
| XM_017021340.1:c.3740A>T | XP_016876829.1:p.Lys1247Met | |
| NM_000257.4:c.3740A>T MANE Select | NP_000248.2:p.Lys1247Met |