Linked Data
dbSNP Id:
rs752421550
ExAC:
11:67800414 A / G
gnomAD v2:
11-67800414-A-G
gnomAD v4:
11-68032947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68032947A>G , CM000673.2:g.68032947A>G | GRCh38 |
| NC_000011.9:g.67800414A>G , CM000673.1:g.67800414A>G | GRCh37 |
| NC_000011.8:g.67556990A>G | NCBI36 |
| NG_017040.1:g.7331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.134A>G MANE Select | ENSP00000315774.5:p.Glu45Gly | |
| ENST00000313468.9:c.134A>G | ENSP00000315774.5:p.Glu45Gly | |
| ENST00000432321.6:n.251A>G | ||
| ENST00000453471.6:c.134A>G | ENSP00000403972.2:p.Glu45Gly | |
| ENST00000525419.5:c.80A>G | ENSP00000433521.1:p.Glu27Gly | |
| ENST00000525628.1:c.134A>G | ENSP00000432968.1:p.Glu45Gly | |
| ENST00000526339.5:c.134A>G | ENSP00000436287.1:p.Glu45Gly | |
| ENST00000526446.5:c.*189A>G | ENSP00000433645.1:n.*189A>G | |
| ENST00000528492.1:c.-67+2214A>G | ENSP00000432848.1:n.-67+2214A>G | |
| ENST00000529645.1:c.312A>G | ENSP00000431293.1:n.312A>G | |
| ENST00000531228.1:c.189A>G | ENSP00000433054.1:p.Arg63= | |
| ENST00000532399.1:n.741A>G | ||
| NM_002496.3:c.134A>G | NP_002487.1:p.Glu45Gly | |
| XM_005274013.1:c.134A>G | XP_005274070.1:p.Glu45Gly | |
| XM_005274014.1:c.134A>G | XP_005274071.1:p.Glu45Gly | |
| XM_005274015.1:c.14A>G | XP_005274072.1:p.Glu5Gly | |
| XM_011545053.1:c.134A>G | XP_011543355.1:p.Glu45Gly | |
| NM_002496.4:c.134A>G MANE Select | NP_002487.1:p.Glu45Gly |