Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312498C>T , CM000676.2:g.21312498C>T | GRCh38 |
| NC_000014.8:g.21780657C>T , CM000676.1:g.21780657C>T | GRCh37 |
| NC_000014.7:g.20850497C>T | NCBI36 |
| NG_008933.1:g.29522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1143C>T MANE Select | ENSP00000382895.2:p.Leu381= | |
| ENST00000400017.6:c.1143C>T | ENSP00000382895.2:p.Leu381= | |
| ENST00000556336.5:c.1062C>T | ENSP00000450445.1:p.Leu354= | |
| ENST00000557771.5:c.1062C>T | ENSP00000451219.1:p.Leu354= | |
| NM_020366.3:c.1143C>T | NP_065099.3:p.Leu381= | |
| XM_011536983.1:c.1110C>T | XP_011535285.1:p.Leu370= | |
| NM_020366.4:c.1143C>T MANE Select | NP_065099.3:p.Leu381= |