Linked Data
ClinVar Variation Id:
1806315
ClinVar RCV Id:
RCV002470599
dbSNP Id:
rs1413029099
gnomAD v2:
7-98529106-G-A
gnomAD v3:
7-98931483-G-A
gnomAD v4:
7-98931483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98931483G>A , CM000669.2:g.98931483G>A | GRCh38 |
| NC_000007.13:g.98529106G>A , CM000669.1:g.98529106G>A | GRCh37 |
| NC_000007.12:g.98367042G>A | NCBI36 |
| NG_030010.1:g.57994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.3667G>A | ENSP00000403708.3:p.Glu1223Lys | |
| ENST00000704587.1:c.3559G>A | ENSP00000515961.1:p.Glu1187Lys | |
| ENST00000456197.2:c.3670G>A MANE Select | ENSP00000394645.2:p.Glu1224Lys | |
| ENST00000355540.7:c.3670G>A | ENSP00000347733.3:p.Glu1224Lys | |
| ENST00000359863.8:c.3670G>A | ENSP00000352925.4:p.Glu1224Lys | |
| ENST00000446306.7:c.3667G>A | ENSP00000403708.3:p.Glu1223Lys | |
| ENST00000456197.1:c.2814G>A | ||
| ENST00000628380.2:c.3667G>A | ENSP00000485781.1:p.Glu1223Lys | |
| NM_001244580.1:c.3670G>A | NP_001231509.1:p.Glu1224Lys | |
| NM_003496.3:c.3670G>A | NP_003487.1:p.Glu1224Lys | |
| NM_001375524.1:c.3670G>A MANE Select | NP_001362453.1:p.Glu1224Lys | |
| NM_001244580.2:c.3670G>A | NP_001231509.1:p.Glu1224Lys | |
| NM_003496.4:c.3670G>A | NP_003487.1:p.Glu1224Lys |