Linked Data
ClinVar Variation Id:
1003828
ClinVar RCV Id:
RCV001300437
dbSNP Id:
rs2064970438
gnomAD v4:
7-16091779-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16091779C>G , CM000669.2:g.16091779C>G | GRCh38 |
| NC_000007.13:g.16131404C>G , CM000669.1:g.16131404C>G | GRCh37 |
| NC_000007.12:g.16097929C>G | NCBI36 |
| NG_032690.1:g.334544G>C | |
| NG_032690.2:g.334544G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1272G>C MANE Select | ENSP00000385478.2:p.Glu424Asp | |
| ENST00000675257.1:c.864G>C | ENSP00000501664.1:p.Glu288Asp | |
| ENST00000676325.1:c.969G>C | ENSP00000502074.1:p.Glu323Asp | |
| ENST00000399310.3:c.1122G>C | ENSP00000382249.3:p.Glu374Asp | |
| ENST00000407010.6:c.1272G>C | ENSP00000385478.2:p.Glu424Asp | |
| NM_001101417.3:c.1122G>C | NP_001094887.1:p.Glu374Asp | |
| NM_001101426.3:c.1272G>C | NP_001094896.1:p.Glu424Asp | |
| XM_006715770.2:c.1023G>C | XP_006715833.1:p.Glu341Asp | |
| XM_011515498.1:c.1251+124287G>C | XP_011513800.1:n.1251+124287G>C | |
| XM_011515500.1:c.1167G>C | XP_011513802.1:p.Glu389Asp | |
| XM_011515502.1:c.969G>C | XP_011513804.1:p.Glu323Asp | |
| XM_011515503.1:c.969G>C | XP_011513805.1:p.Glu323Asp | |
| XM_011515504.1:c.969G>C | XP_011513806.1:p.Glu323Asp | |
| XM_011515505.1:c.969G>C | XP_011513807.1:p.Glu323Asp | |
| XM_011515506.1:c.969G>C | XP_011513808.1:p.Glu323Asp | |
| XM_011515507.1:c.969G>C | XP_011513809.1:p.Glu323Asp | |
| XM_011515508.1:c.969G>C | XP_011513810.1:p.Glu323Asp | |
| XM_011515509.1:c.969G>C | XP_011513811.1:p.Glu323Asp | |
| XM_006715770.3:c.1023G>C | XP_006715833.1:p.Glu341Asp | |
| XM_011515500.2:c.1167G>C | XP_011513802.1:p.Glu389Asp | |
| XM_011515508.2:c.969G>C | XP_011513810.1:p.Glu323Asp | |
| XM_011515509.2:c.969G>C | XP_011513811.1:p.Glu323Asp | |
| XM_017012577.1:c.636G>C | XP_016868066.1:p.Glu212Asp | |
| XM_017012578.1:c.636G>C | XP_016868067.1:p.Glu212Asp | |
| XM_024446909.1:c.969G>C | XP_024302677.1:p.Glu323Asp | |
| XM_024446910.1:c.969G>C | XP_024302678.1:p.Glu323Asp | |
| XM_024446911.1:c.864G>C | XP_024302679.1:p.Glu288Asp | |
| XR_001744868.1:n.1280G>C | ||
| NM_001101426.4:c.1272G>C MANE Select | NP_001094896.1:p.Glu424Asp | |
| NM_001101417.4:c.1122G>C | NP_001094887.1:p.Glu374Asp | |
| NM_001368197.1:c.1167G>C | NP_001355126.1:p.Glu389Asp | |
| NR_160656.1:n.1337G>C |