Linked Data
ClinVar Variation Id:
1631378
dbSNP Id:
rs759338901
ExAC:
11:67257816 G / A
gnomAD v2:
11-67257816-G-A
gnomAD v4:
11-67490345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490345G>A , CM000673.2:g.67490345G>A | GRCh38 |
| NC_000011.9:g.67257816G>A , CM000673.1:g.67257816G>A | GRCh37 |
| NC_000011.8:g.67014392G>A | NCBI36 |
| NG_008969.1:g.12312G>A , LRG_460:g.12312G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.652G>A | ||
| ENST00000528641.7:c.486G>A | ENSP00000434982.3:p.Gln162= | |
| ENST00000529797.2:n.1187G>A | ||
| ENST00000682324.1:c.469-652G>A | ENSP00000508017.1:n.469-652G>A | |
| ENST00000682659.1:c.306G>A | ENSP00000507351.1:p.Gln102= | |
| ENST00000682699.1:c.675G>A | ENSP00000507935.1:p.Gln225= | |
| ENST00000683237.1:c.675G>A | ENSP00000507343.1:p.Gln225= | |
| ENST00000683856.1:c.498G>A | ENSP00000507979.1:p.Gln166= | |
| ENST00000684006.1:c.675G>A | ENSP00000507269.1:p.Gln225= | |
| ENST00000684657.1:c.495G>A | ENSP00000507961.1:p.Gln165= | |
| ENST00000279146.8:c.675G>A MANE Select | ENSP00000279146.3:p.Gln225= | |
| ENST00000279146.7:c.675G>A | ENSP00000279146.3:p.Gln225= | |
| ENST00000525341.1:c.327G>A | ENSP00000476993.1:p.Gln109= | |
| ENST00000528641.6:c.486G>A | ENSP00000434982.2:p.Gln162= | |
| NM_001302959.1:c.498G>A | NP_001289888.1:p.Gln166= | |
| NM_001302960.1:c.675G>A | NP_001289889.1:p.Gln225= | |
| NM_003977.3:c.675G>A | NP_003968.3:p.Gln225= | |
| XM_024448761.1:c.675G>A | XP_024304529.1:p.Gln225= | |
| NM_003977.4:c.675G>A MANE Select | NP_003968.3:p.Gln225= | |
| NM_001302960.2:c.675G>A | NP_001289889.1:p.Gln225= | |
| NM_001302959.2:c.498G>A | NP_001289888.1:p.Gln166= |