Linked Data
ClinVar Variation Id:
2173880
ClinVar RCV Id:
RCV002584805
dbSNP Id:
rs1085307754
gnomAD v2:
15-38643649-G-C
gnomAD v3:
15-38351448-G-C
gnomAD v4:
15-38351448-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351448G>C , CM000677.2:g.38351448G>C | GRCh38 |
| NC_000015.9:g.38643649G>C , CM000677.1:g.38643649G>C | GRCh37 |
| NC_000015.8:g.36430941G>C | NCBI36 |
| NG_008980.1:g.103598G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1119G>C MANE Select | ENSP00000299084.4:p.Glu373Asp | |
| ENST00000299084.8:c.1119G>C | ENSP00000299084.4:p.Glu373Asp | |
| NM_152594.2:c.1119G>C | NP_689807.1:p.Glu373Asp | |
| XM_005254202.2:c.1155G>C | XP_005254259.1:p.Glu385Asp | |
| XM_005254203.3:c.897G>C | XP_005254260.1:p.Glu299Asp | |
| XM_011521288.1:c.1056G>C | XP_011519590.1:p.Glu352Asp | |
| XM_011521289.1:c.1056G>C | XP_011519591.1:p.Glu352Asp | |
| XM_011521290.1:c.1056G>C | XP_011519592.1:p.Glu352Asp | |
| XM_005254202.3:c.1155G>C | XP_005254259.1:p.Glu385Asp | |
| XM_011521289.3:c.1056G>C | XP_011519591.1:p.Glu352Asp | |
| NM_152594.3:c.1119G>C MANE Select | NP_689807.1:p.Glu373Asp |