Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153507052G>T , CM000685.2:g.153507052G>T | GRCh38 |
| NC_000023.10:g.152772510G>T , CM000685.1:g.152772510G>T | GRCh37 |
| NC_000023.9:g.152425704G>T | NCBI36 |
| NG_015961.1:g.17100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331595.9:c.776G>T MANE Select | ENSP00000327336.4:p.Gly259Val | |
| ENST00000331595.8:c.776G>T | ENSP00000327336.4:p.Gly259Val | |
| ENST00000472615.5:n.793G>T | ||
| ENST00000480756.1:n.846G>T | ||
| ENST00000492658.1:n.294+438G>T | ||
| NM_001711.4:c.776G>T | NP_001702.1:p.Gly259Val | |
| NM_001711.5:c.776G>T | NP_001702.1:p.Gly259Val | |
| XM_017029724.2:c.776G>T | XP_016885213.1:p.Gly259Val | |
| NM_001711.6:c.776G>T MANE Select | NP_001702.1:p.Gly259Val |