Linked Data
dbSNP Id:
rs201925633
ExAC:
5:176520523 C / A
gnomAD v2:
5-176520523-C-A
gnomAD v4:
5-177093522-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093522C>A , CM000667.2:g.177093522C>A | GRCh38 |
| NC_000005.9:g.176520523C>A , CM000667.1:g.176520523C>A | GRCh37 |
| NC_000005.8:g.176453129C>A | NCBI36 |
| NG_012067.1:g.11603C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1368C>A MANE Select | ENSP00000292408.4:p.Leu456= | |
| ENST00000292408.8:c.1368C>A | ENSP00000292408.4:p.Leu456= | |
| ENST00000393637.5:c.1248C>A | ENSP00000377254.1:p.Leu416= | |
| ENST00000393648.6:c.1193+21C>A | ENSP00000377259.2:n.1193+21C>A | |
| ENST00000502906.5:c.1368C>A | ENSP00000424960.1:p.Leu456= | |
| ENST00000511076.1:c.262C>A | ||
| NM_001291980.1:c.1193+21C>A | NP_001278909.1:n.1193+21C>A | |
| NM_002011.4:c.1368C>A | NP_002002.3:p.Leu456= | |
| NM_022963.3:c.1248C>A | NP_075252.2:p.Leu416= | |
| NM_213647.2:c.1368C>A | NP_998812.1:p.Leu456= | |
| XM_005265838.2:c.1368C>A | XP_005265895.1:p.Leu456= | |
| XM_011534464.1:c.1461C>A | XP_011532766.1:p.Leu487= | |
| XM_011534465.1:c.1050C>A | XP_011532767.1:p.Leu350= | |
| XR_941090.1:n.1392+21C>A | ||
| NM_001354984.1:c.1368C>A | NP_001341913.1:p.Leu456= | |
| NM_213647.3:c.1368C>A MANE Select | NP_998812.1:p.Leu456= | |
| NM_001291980.2:c.1193+21C>A | NP_001278909.1:n.1193+21C>A | |
| NM_001354984.2:c.1368C>A | NP_001341913.1:p.Leu456= | |
| NM_002011.5:c.1368C>A | NP_002002.3:p.Leu456= |