Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312467G>T , CM000676.2:g.21312467G>T | GRCh38 |
| NC_000014.8:g.21780626G>T , CM000676.1:g.21780626G>T | GRCh37 |
| NC_000014.7:g.20850466G>T | NCBI36 |
| NG_008933.1:g.29491G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1112G>T MANE Select | ENSP00000382895.2:p.Arg371Leu | |
| ENST00000400017.6:c.1112G>T | ENSP00000382895.2:p.Arg371Leu | |
| ENST00000556336.5:c.1031G>T | ENSP00000450445.1:p.Arg344Leu | |
| ENST00000557771.5:c.1031G>T | ENSP00000451219.1:p.Arg344Leu | |
| NM_020366.3:c.1112G>T | NP_065099.3:p.Arg371Leu | |
| XM_011536983.1:c.1079G>T | XP_011535285.1:p.Arg360Leu | |
| NM_020366.4:c.1112G>T MANE Select | NP_065099.3:p.Arg371Leu |