Linked Data
dbSNP Id:
rs374324200
ExAC:
11:67250719 T / A
gnomAD v2:
11-67250719-T-A
gnomAD v4:
11-67483248-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483248T>A , CM000673.2:g.67483248T>A | GRCh38 |
| NC_000011.9:g.67250719T>A , CM000673.1:g.67250719T>A | GRCh37 |
| NC_000011.8:g.67007295T>A | NCBI36 |
| NG_008969.1:g.5215T>A , LRG_460:g.5215T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.67T>A | ||
| ENST00000528641.7:c.90T>A | ENSP00000434982.3:p.Asp30Glu | |
| ENST00000529797.2:n.20T>A | ||
| ENST00000682324.1:c.90T>A | ENSP00000508017.1:p.Asp30Glu | |
| ENST00000682659.1:c.90T>A | ENSP00000507351.1:p.Asp30Glu | |
| ENST00000682699.1:c.90T>A | ENSP00000507935.1:p.Asp30Glu | |
| ENST00000683237.1:c.90T>A | ENSP00000507343.1:p.Asp30Glu | |
| ENST00000684006.1:c.90T>A | ENSP00000507269.1:p.Asp30Glu | |
| ENST00000684657.1:c.90T>A | ENSP00000507961.1:p.Asp30Glu | |
| ENST00000279146.8:c.90T>A MANE Select | ENSP00000279146.3:p.Asp30Glu | |
| ENST00000279146.7:c.90T>A | ENSP00000279146.3:p.Asp30Glu | |
| ENST00000528641.6:c.90T>A | ENSP00000434982.2:p.Asp30Glu | |
| ENST00000529797.1:n.200T>A | ||
| NM_001302960.1:c.90T>A | NP_001289889.1:p.Asp30Glu | |
| NM_003977.3:c.90T>A | NP_003968.3:p.Asp30Glu | |
| XM_024448761.1:c.90T>A | XP_024304529.1:p.Asp30Glu | |
| NM_003977.4:c.90T>A MANE Select | NP_003968.3:p.Asp30Glu | |
| NM_001302960.2:c.90T>A | NP_001289889.1:p.Asp30Glu |