Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21301189A>T , CM000676.2:g.21301189A>T | GRCh38 |
| NC_000014.8:g.21769348A>T , CM000676.1:g.21769348A>T | GRCh37 |
| NC_000014.7:g.20839188A>T | NCBI36 |
| NG_008933.1:g.18213A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.442A>T MANE Select | NP_065099.3:p.Arg148Ter |
| ENST00000400017.7:c.442A>T MANE Select | ENSP00000382895.2:p.Arg148Ter |
| NM_020366.3:c.442A>T | NP_065099.3:p.Arg148Ter |
| ENST00000400017.6:c.442A>T | ENSP00000382895.2:p.Arg148Ter |
| ENST00000554750.1:n.41A>T | |
| ENST00000556336.5:c.442A>T | ENSP00000450445.1:p.Arg148Ter |
| ENST00000557771.5:c.442A>T | ENSP00000451219.1:p.Arg148Ter |
| XM_011536983.1:c.442A>T | XP_011535285.1:p.Arg148Ter |