Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128364669A>T , CM000667.2:g.128364669A>T | GRCh38 |
| NC_000005.9:g.127700362A>T , CM000667.1:g.127700362A>T | GRCh37 |
| NC_000005.8:g.127728261A>T | NCBI36 |
| NG_008750.1:g.178374T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.2359T>A MANE Select | NP_001990.2:p.Leu787Ile |
| ENST00000262464.9:c.2359T>A MANE Select | ENSP00000262464.4:p.Leu787Ile |
| NM_001999.3:c.2359T>A | NP_001990.2:p.Leu787Ile |
| ENST00000262464.8:c.2359T>A | ENSP00000262464.4:p.Leu787Ile |
| ENST00000508053.5:c.2359T>A | ENSP00000424571.1:p.Leu787Ile |
| ENST00000508989.5:c.2260T>A | ENSP00000425596.1:p.Leu754Ile |
| ENST00000619499.4:c.2356T>A | ENSP00000482132.1:p.Leu786Ile |
| XM_017009228.2:c.2206T>A | XP_016864717.1:p.Leu736Ile |