Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980318G>T , CM000667.2:g.149980318G>T | GRCh38 |
| NC_000005.9:g.149359881G>T , CM000667.1:g.149359881G>T | GRCh37 |
| NC_000005.8:g.149340074G>T | NCBI36 |
| NG_007147.2:g.21436G>T , LRG_684:g.21436G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.725G>T MANE Select | ENSP00000286298.4:p.Gly242Val | |
| ENST00000286298.4:c.725G>T | ENSP00000286298.4:p.Gly242Val | |
| ENST00000503336.1:c.372+1967G>T | ENSP00000426053.1:n.372+1967G>T | |
| NM_000112.3:c.725G>T , LRG_684t1:c.725G>T | NP_000103.2:p.Gly242Val | |
| XM_017009191.2:c.725G>T | XP_016864680.1:p.Gly242Val | |
| NM_000112.4:c.725G>T MANE Select | NP_000103.2:p.Gly242Val |