Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718559C>G , CM000671.2:g.92718559C>G | GRCh38 |
| NC_000009.11:g.95480841C>G , CM000671.1:g.95480841C>G | GRCh37 |
| NC_000009.10:g.94520662C>G | NCBI36 |
| NG_033908.1:g.51243G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.2086G>C MANE Select | ENSP00000349351.6:p.Val696Leu | |
| ENST00000356884.10:c.2086G>C | ENSP00000349351.6:p.Val696Leu | |
| ENST00000375512.3:c.2086G>C | ENSP00000364662.3:p.Val696Leu | |
| NM_001003800.1:c.2086G>C | NP_001003800.1:p.Val696Leu | |
| NM_015250.3:c.2086G>C | NP_056065.1:p.Val696Leu | |
| XM_017014551.1:c.2167G>C | XP_016870040.1:p.Val723Leu | |
| NM_001003800.2:c.2086G>C MANE Select | NP_001003800.1:p.Val696Leu | |
| NM_015250.4:c.2086G>C | NP_056065.1:p.Val696Leu |