Linked Data
ClinVar Variation Id:
1591002
ClinVar RCV Id:
RCV002103915
dbSNP Id:
rs1008107416
gnomAD v2:
10-50678859-A-G
gnomAD v3:
10-49470813-A-G
gnomAD v4:
10-49470813-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470813A>G , CM000672.2:g.49470813A>G | GRCh38 |
| NC_000010.10:g.50678859A>G , CM000672.1:g.50678859A>G | GRCh37 |
| NC_000010.9:g.50348865A>G | NCBI36 |
| NG_009442.1:g.73289T>C , LRG_465:g.73289T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3147T>C MANE Select | ENSP00000348089.5:p.Asp1049= | |
| ENST00000679552.1:n.218T>C | ||
| ENST00000679871.1:n.293T>C | ||
| ENST00000679974.1:n.196T>C | ||
| ENST00000681632.1:n.4550T>C | ||
| ENST00000681659.1:c.2988T>C | ENSP00000505631.1:p.Asp996= | |
| ENST00000355832.9:c.3147T>C | ENSP00000348089.5:p.Asp1049= | |
| ENST00000623073.3:c.*1443T>C | ENSP00000485650.1:n.*1443T>C | |
| ENST00000623115.3:c.1257T>C | ENSP00000485321.1:p.Asp419= | |
| ENST00000624341.3:c.979T>C | ||
| NM_000124.3:c.3147T>C | NP_000115.1:p.Asp1049= | |
| XR_945953.1:n.243-752A>G | ||
| NM_001346440.1:c.3147T>C | NP_001333369.1:p.Asp1049= | |
| NM_000124.4:c.3147T>C MANE Select | NP_000115.1:p.Asp1049= | |
| NM_001346440.2:c.3147T>C | NP_001333369.1:p.Asp1049= |