Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718875C>G , CM000671.2:g.92718875C>G | GRCh38 |
| NC_000009.11:g.95481157C>G , CM000671.1:g.95481157C>G | GRCh37 |
| NC_000009.10:g.94520978C>G | NCBI36 |
| NG_033908.1:g.50927G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1770G>C MANE Select | ENSP00000349351.6:p.Leu590= | |
| ENST00000356884.10:c.1770G>C | ENSP00000349351.6:p.Leu590= | |
| ENST00000375512.3:c.1770G>C | ENSP00000364662.3:p.Leu590= | |
| NM_001003800.1:c.1770G>C | NP_001003800.1:p.Leu590= | |
| NM_015250.3:c.1770G>C | NP_056065.1:p.Leu590= | |
| XM_017014551.1:c.1851G>C | XP_016870040.1:p.Leu617= | |
| NM_001003800.2:c.1770G>C MANE Select | NP_001003800.1:p.Leu590= | |
| NM_015250.4:c.1770G>C | NP_056065.1:p.Leu590= |