Linked Data
ClinVar Variation Id:
36360
dbSNP Id:
rs193922477
ExAC:
20:43048458 G / C
gnomAD v2:
20-43048458-G-C
gnomAD v3:
20-44419818-G-C
gnomAD v4:
20-44419818-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44419818G>C , CM000682.2:g.44419818G>C | GRCh38 |
| NC_000020.10:g.43048458G>C , CM000682.1:g.43048458G>C | GRCh37 |
| NC_000020.9:g.42481872G>C | NCBI36 |
| NG_009818.1:g.69018G>C , LRG_483:g.69018G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316673.9:c.768G>C MANE Select | ENSP00000315180.4:p.Glu256Asp | |
| ENST00000316099.10:c.834G>C | ENSP00000312987.3:p.Glu278Asp | |
| ENST00000619550.5:c.808G>C | ||
| ENST00000683148.1:n.810G>C | ||
| ENST00000683657.1:n.1958G>C | ||
| ENST00000316099.9:c.834G>C | ENSP00000312987.3:p.Glu278Asp | |
| ENST00000316099.8:c.834G>C | ENSP00000312987.3:p.Glu278Asp | |
| ENST00000316673.8:c.768G>C | ENSP00000315180.4:p.Glu256Asp | |
| ENST00000372920.1:c.*601G>C | ENSP00000362011.1:n.*601G>C | |
| ENST00000415691.2:c.834G>C | ENSP00000412111.1:p.Glu278Asp | |
| ENST00000443598.6:c.834G>C | ENSP00000410911.2:p.Glu278Asp | |
| ENST00000457232.5:c.768G>C | ENSP00000396216.1:p.Glu256Asp | |
| ENST00000609795.5:c.768G>C | ENSP00000476609.1:p.Glu256Asp | |
| ENST00000619550.4:c.759G>C | ENSP00000481331.1:p.Glu253Asp | |
| NM_000457.4:c.834G>C , LRG_483t2:c.834G>C | NP_000448.3:p.Glu278Asp | |
| NM_001030003.2:c.768G>C | NP_001025174.1:p.Glu256Asp | |
| NM_001030004.2:c.768G>C | NP_001025175.1:p.Glu256Asp | |
| NM_001258355.1:c.813G>C | NP_001245284.1:p.Glu271Asp | |
| NM_001287182.1:c.759G>C | NP_001274111.1:p.Glu253Asp | |
| NM_001287183.1:c.759G>C , LRG_483t3:c.759G>C | NP_001274112.1:p.Glu253Asp | |
| NM_001287184.1:c.759G>C | NP_001274113.1:p.Glu253Asp | |
| NM_175914.4:c.768G>C , LRG_483t1:c.768G>C | NP_787110.2:p.Glu256Asp | |
| NM_178849.2:c.834G>C | NP_849180.1:p.Glu278Asp | |
| NM_178850.2:c.834G>C | NP_849181.1:p.Glu278Asp | |
| XM_005260407.2:c.951G>C | XP_005260464.1:p.Glu317Asp | |
| XM_011528797.1:c.882G>C | XP_011527099.1:p.Glu294Asp | |
| XM_011528798.1:c.882G>C | XP_011527100.1:p.Glu294Asp | |
| XM_005260407.4:c.951G>C | XP_005260464.1:p.Glu317Asp | |
| NM_001030003.3:c.768G>C | NP_001025174.1:p.Glu256Asp | |
| NM_001030004.3:c.768G>C | NP_001025175.1:p.Glu256Asp | |
| NM_001258355.2:c.813G>C | NP_001245284.1:p.Glu271Asp | |
| NM_001287182.2:c.759G>C | NP_001274111.1:p.Glu253Asp | |
| NM_001287184.2:c.759G>C | NP_001274113.1:p.Glu253Asp | |
| NM_178849.3:c.834G>C | NP_849180.1:p.Glu278Asp | |
| NM_178850.3:c.834G>C | NP_849181.1:p.Glu278Asp | |
| NM_000457.5:c.834G>C | NP_000448.3:p.Glu278Asp | |
| NM_000457.6:c.834G>C | NP_000448.3:p.Glu278Asp | |
| NM_001287183.2:c.759G>C | NP_001274112.1:p.Glu253Asp | |
| NM_175914.5:c.768G>C MANE Select | NP_787110.2:p.Glu256Asp |