Linked Data
dbSNP Id:
rs370844523
gnomAD v2:
11-134132451-G-C
gnomAD v3:
11-134262557-G-C
gnomAD v4:
11-134262557-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134262557G>C , CM000673.2:g.134262557G>C | GRCh38 |
| NC_000011.9:g.134132451G>C , CM000673.1:g.134132451G>C | GRCh37 |
| NC_000011.8:g.133637661G>C | NCBI36 |
| NG_015842.1:g.14018G>C , LRG_448:g.14018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281182.9:c.1130G>C MANE Select | ENSP00000281182.5:p.Gly377Ala | |
| ENST00000281182.8:c.1130G>C | ENSP00000281182.4:p.Gly377Ala | |
| ENST00000374752.6:c.749G>C | ENSP00000363884.4:p.Gly250Ala | |
| ENST00000524426.5:c.*860G>C | ENSP00000431310.1:n.*860G>C | |
| ENST00000524502.2:n.130G>C | ||
| ENST00000526026.5:c.*819G>C | ENSP00000431532.1:n.*819G>C | |
| ENST00000531338.5:n.1374G>C | ||
| ENST00000533387.5:n.2189G>C | ||
| NM_014384.2:c.1130G>C , LRG_448t1:c.1130G>C | NP_055199.1:p.Gly377Ala | |
| XM_005271501.2:c.1130G>C | XP_005271558.1:p.Gly377Ala | |
| XM_011542750.1:c.1130G>C | XP_011541052.1:p.Gly377Ala | |
| XR_947819.1:n.1194G>C | ||
| XR_947820.1:n.1582G>C | ||
| XR_947821.1:n.1339G>C | ||
| XR_947822.1:n.1024G>C | ||
| XR_947823.1:n.1180G>C | ||
| XM_005271505.4:c.*1395G>C | XP_005271562.1:n.*1395G>C | |
| XM_011542750.3:c.1130G>C | XP_011541052.1:p.Gly377Ala | |
| XM_017017542.2:c.1130G>C | XP_016873031.1:p.Gly377Ala | |
| XM_017017543.2:c.1130G>C | XP_016873032.1:p.Gly377Ala | |
| XM_017017544.2:c.*99G>C | XP_016873033.1:n.*99G>C | |
| XM_017017545.2:c.*342G>C | XP_016873034.1:n.*342G>C | |
| XM_017017546.2:c.836G>C | XP_016873035.1:p.Gly279Ala | |
| XM_017017547.2:c.836G>C | XP_016873036.1:p.Gly279Ala | |
| XM_017017548.2:c.*1766G>C | XP_016873037.1:n.*1766G>C | |
| XM_017017549.2:c.*1540G>C | XP_016873038.1:n.*1540G>C | |
| XM_024448437.1:c.*277G>C | XP_024304205.1:n.*277G>C | |
| XM_024448438.1:c.749G>C | XP_024304206.1:p.Gly250Ala | |
| NM_014384.3:c.1130G>C MANE Select | NP_055199.1:p.Gly377Ala |