Linked Data
ClinVar Variation Id:
372297
dbSNP Id:
rs200620279
ExAC:
11:134131650 G / A
gnomAD v2:
11-134131650-G-A
gnomAD v3:
11-134261756-G-A
gnomAD v4:
11-134261756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134261756G>A , CM000673.2:g.134261756G>A | GRCh38 |
| NC_000011.9:g.134131650G>A , CM000673.1:g.134131650G>A | GRCh37 |
| NC_000011.8:g.133636860G>A | NCBI36 |
| NG_015842.1:g.13217G>A , LRG_448:g.13217G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281182.9:c.958G>A MANE Select | ENSP00000281182.5:p.Ala320Thr | |
| ENST00000281182.8:c.958G>A | ENSP00000281182.4:p.Ala320Thr | |
| ENST00000374752.6:c.577G>A | ENSP00000363884.4:p.Ala193Thr | |
| ENST00000524426.5:c.*688G>A | ENSP00000431310.1:n.*688G>A | |
| ENST00000524547.5:n.561G>A | ||
| ENST00000526026.5:c.*647G>A | ENSP00000431532.1:n.*647G>A | |
| ENST00000527665.5:n.1346G>A | ||
| ENST00000531338.5:n.814G>A | ||
| ENST00000533387.5:n.2017G>A | ||
| NM_014384.2:c.958G>A , LRG_448t1:c.958G>A | NP_055199.1:p.Ala320Thr | |
| XM_005271501.2:c.958G>A | XP_005271558.1:p.Ala320Thr | |
| XM_011542750.1:c.958G>A | XP_011541052.1:p.Ala320Thr | |
| XR_947819.1:n.1022G>A | ||
| XR_947820.1:n.1022G>A | ||
| XR_947821.1:n.1022G>A | ||
| XR_947822.1:n.852G>A | ||
| XR_947823.1:n.1008G>A | ||
| XM_005271505.4:c.*1223G>A | XP_005271562.1:n.*1223G>A | |
| XM_011542750.3:c.958G>A | XP_011541052.1:p.Ala320Thr | |
| XM_017017542.2:c.958G>A | XP_016873031.1:p.Ala320Thr | |
| XM_017017543.2:c.958G>A | XP_016873032.1:p.Ala320Thr | |
| XM_017017544.2:c.958G>A | XP_016873033.1:p.Ala320Thr | |
| XM_017017545.2:c.958G>A | XP_016873034.1:p.Ala320Thr | |
| XM_017017546.2:c.664G>A | XP_016873035.1:p.Ala222Thr | |
| XM_017017547.2:c.664G>A | XP_016873036.1:p.Ala222Thr | |
| XM_017017548.2:c.*1449G>A | XP_016873037.1:n.*1449G>A | |
| XM_017017549.2:c.*1223G>A | XP_016873038.1:n.*1223G>A | |
| XM_024448437.1:c.958G>A | XP_024304205.1:p.Ala320Thr | |
| XM_024448438.1:c.577G>A | XP_024304206.1:p.Ala193Thr | |
| NM_014384.3:c.958G>A MANE Select | NP_055199.1:p.Ala320Thr |