Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414378C>A , CM000665.2:g.119414378C>A | GRCh38 |
| NC_000003.11:g.119133225C>A , CM000665.1:g.119133225C>A | GRCh37 |
| NC_000003.10:g.120615915C>A | NCBI36 |
| NG_007665.2:g.125006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2449C>A MANE Select | ENSP00000264245.4:p.Leu817Ile | |
| ENST00000264245.8:c.2449C>A | ENSP00000264245.4:p.Leu817Ile | |
| NM_020754.3:c.2449C>A | NP_065805.2:p.Leu817Ile | |
| XM_005247671.3:c.2356C>A | XP_005247728.1:p.Leu786Ile | |
| XM_006713714.2:c.2389C>A | XP_006713777.1:p.Leu797Ile | |
| XM_006713714.3:c.2389C>A | XP_006713777.1:p.Leu797Ile | |
| XM_017006955.1:c.1957C>A | XP_016862444.1:p.Leu653Ile | |
| NM_020754.4:c.2449C>A MANE Select | NP_065805.2:p.Leu817Ile |