Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142943026A>G , CM000669.2:g.142943026A>G | GRCh38 |
| NC_000007.13:g.142640113A>G , CM000669.1:g.142640113A>G | GRCh37 |
| NC_000007.12:g.142350235A>G | NCBI36 |
| NG_007492.1:g.24391T>C | |
| NG_007492.2:g.24391T>C | |
| NG_007492.3:g.24391T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000420.3:c.1790T>C MANE Select | NP_000411.1:p.Leu597Pro |
| ENST00000355265.7:c.1790T>C MANE Select | ENSP00000347409.2:p.Leu597Pro |
| NM_000420.2:c.1790T>C | NP_000411.1:p.Leu597Pro |
| ENST00000355265.6:c.1790T>C | ENSP00000347409.2:p.Leu597Pro |
| ENST00000470850.1:n.169-79T>C | |
| ENST00000478969.1:n.129T>C | |
| XM_005249993.2:c.1826T>C | XP_005250050.1:p.Leu609Pro |
| XM_005249994.3:c.863T>C | XP_005250051.1:p.Leu288Pro |