Linked Data
dbSNP Id:
rs758212733
ExAC:
15:51289579 A / G
gnomAD v2:
15-51289579-A-G
gnomAD v4:
15-50997382-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50997382A>G , CM000677.2:g.50997382A>G | GRCh38 |
| NC_000015.9:g.51289579A>G , CM000677.1:g.51289579A>G | GRCh37 |
| NC_000015.8:g.49076871A>G | NCBI36 |
| NG_031875.1:g.93711A>G | |
| NG_031875.2:g.93711A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261842.10:c.2403A>G MANE Select | ENSP00000261842.5:p.Glu801= | |
| ENST00000261842.9:c.2403A>G | ENSP00000261842.5:p.Glu801= | |
| ENST00000558439.5:c.*1527A>G | ENSP00000452712.1:n.*1527A>G | |
| ENST00000560508.1:c.2178A>G | ENSP00000452976.1:p.Glu726= | |
| ENST00000561393.5:c.*1447A>G | ENSP00000452711.1:n.*1447A>G | |
| NM_001252127.1:c.2178A>G | NP_001239056.1:p.Glu726= | |
| NM_007347.4:c.2403A>G | NP_031373.2:p.Glu801= | |
| XM_005254264.2:c.2178A>G | XP_005254321.1:p.Glu726= | |
| XM_006720447.2:c.2178A>G | XP_006720510.1:p.Glu726= | |
| XM_011521408.1:c.2223A>G | XP_011519710.1:p.Glu741= | |
| XM_011521409.1:c.1053A>G | XP_011519711.1:p.Glu351= | |
| XM_005254264.4:c.2178A>G | XP_005254321.1:p.Glu726= | |
| XM_006720447.4:c.2178A>G | XP_006720510.1:p.Glu726= | |
| XM_017022042.2:c.1521A>G | XP_016877531.1:p.Glu507= | |
| XR_001751183.1:n.2510A>G | ||
| XR_001751184.1:n.2386A>G | ||
| NM_007347.5:c.2403A>G MANE Select | NP_031373.2:p.Glu801= | |
| NM_001252127.2:c.2178A>G | NP_001239056.1:p.Glu726= |