Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32544165T>C , CM000671.2:g.32544165T>C | GRCh38 |
| NC_000009.11:g.32544163T>C , CM000671.1:g.32544163T>C | GRCh37 |
| NC_000009.10:g.32534163T>C | NCBI36 |
| NG_017050.1:g.13460A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005802.5:c.360A>G MANE Select | NP_005793.2:p.Leu120= |
| ENST00000360538.7:c.360A>G MANE Select | ENSP00000353735.2:p.Leu120= |
| NM_001195622.1:c.165A>G | NP_001182551.1:p.Leu55= |
| NM_001195622.2:c.165A>G | NP_001182551.1:p.Leu55= |
| NM_005802.4:c.360A>G | NP_005793.2:p.Leu120= |
| ENST00000360538.6:c.360A>G | ENSP00000353735.2:p.Leu120= |
| ENST00000379858.1:c.165A>G | ENSP00000369187.1:p.Leu55= |
| ENST00000680198.1:c.198+6609A>G | ENSP00000505143.1:n.198+6609A>G |
| ENST00000681750.1:c.-45+6609A>G | ENSP00000506413.1:n.-45+6609A>G |