ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934513T>G , CM000673.2:g.68934513T>G | GRCh38 |
| NC_000011.9:g.68701981T>G , CM000673.1:g.68701981T>G | GRCh37 |
| NC_000011.8:g.68458557T>G | NCBI36 |
| NG_007976.1:g.35663T>G , LRG_250:g.35663T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1587T>G MANE Select | ENSP00000255078.4:p.Gly529= | |
| ENST00000674672.1:n.50T>G | ||
| ENST00000674955.1:c.*304T>G | ENSP00000502463.1:n.*304T>G | |
| ENST00000675118.1:c.1075T>G | ||
| ENST00000675205.1:n.233T>G | ||
| ENST00000675615.1:c.1587T>G | ENSP00000502413.1:p.Gly529= | |
| ENST00000675648.1:n.962T>G | ||
| ENST00000675964.1:n.50T>G | ||
| ENST00000675997.1:n.162T>G | ||
| ENST00000676173.1:n.2332T>G | ||
| ENST00000676182.1:c.50T>G | ||
| ENST00000676228.1:c.*910T>G | ENSP00000502375.1:n.*910T>G | |
| ENST00000255078.7:c.1587T>G | ENSP00000255078.3:p.Gly529= | |
| ENST00000539064.5:n.1346T>G | ||
| ENST00000541229.5:n.282T>G | ||
| ENST00000543739.5:n.704T>G | ||
| ENST00000545475.1:n.183T>G | ||
| NM_002180.2:c.1587T>G , LRG_250t1:c.1587T>G | NP_002171.2:p.Gly529= | |
| XM_005273974.2:c.576T>G | XP_005274031.1:p.Gly192= | |
| XM_005273975.2:c.459T>G | XP_005274032.1:p.Gly153= | |
| XM_011544994.1:c.354T>G | XP_011543296.1:p.Gly118= | |
| XR_949903.1:n.1689T>G | ||
| XM_005273975.3:c.459T>G | XP_005274032.1:p.Gly153= | |
| XM_017017669.2:c.576T>G | XP_016873158.1:p.Gly192= | |
| XM_017017670.2:c.576T>G | XP_016873159.1:p.Gly192= | |
| XM_017017671.2:c.1587T>G | XP_016873160.1:p.Gly529= | |
| XR_949903.3:n.1685T>G | ||
| NM_002180.3:c.1587T>G MANE Select | NP_002171.2:p.Gly529= |