Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272707C>A , CM000676.2:g.91272707C>A | GRCh38 |
| NC_000014.8:g.91739051C>A , CM000676.1:g.91739051C>A | GRCh37 |
| NC_000014.7:g.90808804C>A | NCBI36 |
| NG_033118.1:g.150138G>T | |
| NG_033118.2:g.150138G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6005G>T MANE Select | ENSP00000374507.6:p.Gly2002Val | |
| ENST00000331194.8:c.1439G>T | ENSP00000330332.8:p.Gly480Val | |
| ENST00000389857.10:c.6005G>T | ENSP00000374507.6:p.Gly2002Val | |
| ENST00000556726.5:c.2233G>T | ||
| NM_001080414.3:c.6005G>T | NP_001073883.2:p.Gly2002Val | |
| XM_011536796.1:c.5897G>T | XP_011535098.1:p.Gly1966Val | |
| XM_011536796.2:c.5897G>T | XP_011535098.1:p.Gly1966Val | |
| XM_017021336.1:c.3086G>T | XP_016876825.1:p.Gly1029Val | |
| NM_001080414.4:c.6005G>T MANE Select | NP_001073883.2:p.Gly2002Val |