Linked Data
ClinVar Variation Id:
3061041
ClinVar RCV Id:
RCV004542613
dbSNP Id:
rs1263612053
gnomAD v4:
19-7172304-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7172304C>G , CM000681.2:g.7172304C>G | GRCh38 |
| NC_000019.9:g.7172315C>G , CM000681.1:g.7172315C>G | GRCh37 |
| NC_000019.8:g.7123315C>G | NCBI36 |
| NG_008852.2:g.126697G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.1254G>C MANE Select | ENSP00000303830.4:p.Glu418Asp | |
| ENST00000302850.9:c.1254G>C | ENSP00000303830.4:p.Glu418Asp | |
| ENST00000341500.9:c.1254G>C | ENSP00000342838.4:p.Glu418Asp | |
| ENST00000598216.1:n.1229G>C | ||
| NM_000208.2:c.1254G>C | NP_000199.2:p.Glu418Asp | |
| NM_000208.3:c.1254G>C | NP_000199.2:p.Glu418Asp | |
| NM_001079817.1:c.1254G>C | NP_001073285.1:p.Glu418Asp | |
| NM_001079817.2:c.1254G>C | NP_001073285.1:p.Glu418Asp | |
| XM_011527988.1:c.1332G>C | XP_011526290.1:p.Glu444Asp | |
| XM_011527989.1:c.1332G>C | XP_011526291.1:p.Glu444Asp | |
| XM_011527988.2:c.1254G>C | XP_011526290.2:p.Glu418Asp | |
| XM_011527989.3:c.1254G>C | XP_011526291.2:p.Glu418Asp | |
| NM_000208.4:c.1254G>C MANE Select | NP_000199.2:p.Glu418Asp | |
| NM_001079817.3:c.1254G>C | NP_001073285.1:p.Glu418Asp |