Linked Data
dbSNP Id:
rs531223061
ExAC:
11:6415201 G / C
gnomAD v2:
11-6415201-G-C
gnomAD v3:
11-6393971-G-C
gnomAD v4:
11-6393971-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393971G>C , CM000673.2:g.6393971G>C | GRCh38 |
| NC_000011.9:g.6415201G>C , CM000673.1:g.6415201G>C | GRCh37 |
| NC_000011.8:g.6371777G>C | NCBI36 |
| NG_011780.1:g.8547G>C | |
| NG_029615.1:g.30444C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1416G>C MANE Select | ENSP00000340409.4:p.Glu472Asp | |
| ENST00000342245.8:c.1416G>C | ENSP00000340409.4:p.Glu472Asp | |
| ENST00000526280.1:c.473G>C | ||
| ENST00000527275.5:c.1413G>C | ENSP00000435350.1:p.Glu471Asp | |
| ENST00000531303.5:c.*247G>C | ENSP00000432625.1:n.*247G>C | |
| ENST00000531336.1:n.248G>C | ||
| ENST00000532367.1:n.252G>C | ||
| ENST00000533123.5:c.*143G>C | ENSP00000435950.1:n.*143G>C | |
| ENST00000534405.5:c.*247G>C | ENSP00000434353.1:n.*247G>C | |
| NM_000543.4:c.1416G>C | NP_000534.3:p.Glu472Asp | |
| NM_001007593.2:c.1413G>C | NP_001007594.2:p.Glu471Asp | |
| XM_005253075.3:c.1416G>C | XP_005253132.1:p.Glu472Asp | |
| XM_011520303.1:c.1284G>C | XP_011518605.1:p.Glu428Asp | |
| XM_011520304.1:c.1284G>C | XP_011518606.1:p.Glu428Asp | |
| XR_930886.1:n.1754G>C | ||
| NM_001318087.1:c.1416G>C | NP_001305016.1:p.Glu472Asp | |
| NM_001318088.1:c.495G>C | NP_001305017.1:p.Glu165Asp | |
| NM_001365135.1:c.1284G>C | NP_001352064.1:p.Glu428Asp | |
| NR_027400.2:n.1429G>C | ||
| NR_134502.1:n.948G>C | ||
| XM_011520304.2:c.1284G>C | XP_011518606.1:p.Glu428Asp | |
| XR_001747940.2:n.1581G>C | ||
| XR_002957158.1:n.1783G>C | ||
| NM_000543.5:c.1416G>C MANE Select | NP_000534.3:p.Glu472Asp | |
| NM_001007593.3:c.1413G>C | NP_001007594.2:p.Glu471Asp | |
| NM_001318087.2:c.1416G>C | NP_001305016.1:p.Glu472Asp | |
| NM_001318088.2:c.495G>C | NP_001305017.1:p.Glu165Asp | |
| NM_001365135.2:c.1284G>C | NP_001352064.1:p.Glu428Asp | |
| NR_027400.3:n.1369G>C | ||
| NR_134502.2:n.888G>C |