Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131501591A>T , CM000665.2:g.131501591A>T | GRCh38 |
| NC_000003.11:g.131220435A>T , CM000665.1:g.131220435A>T | GRCh37 |
| NC_000003.10:g.132703125A>T | NCBI36 |
| NG_029207.1:g.6426T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007208.4:c.217T>A MANE Select | NP_009139.1:p.Leu73Ile |
| ENST00000264995.8:c.217T>A MANE Select | ENSP00000264995.2:p.Leu73Ile |
| NM_007208.3:c.217T>A | NP_009139.1:p.Leu73Ile |
| ENST00000264995.7:c.217T>A | ENSP00000264995.2:p.Leu73Ile |
| ENST00000425847.6:c.298T>A | ENSP00000398536.2:p.Leu100Ile |
| ENST00000507669.5:c.-99T>A | ENSP00000422419.1:n.-99T>A |
| ENST00000510154.1:c.-99T>A | ENSP00000422622.1:n.-99T>A |
| ENST00000510923.5:n.363T>A | |
| ENST00000511168.5:c.260T>A | |
| ENST00000512877.1:c.217T>A | ENSP00000422035.1:p.Leu73Ile |