Linked Data
ClinVar Variation Id:
1612566
ClinVar RCV Id:
RCV002158035
dbSNP Id:
rs745341304
ExAC:
10:50678691 A / G
gnomAD v4:
10-49470645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470645A>G , CM000672.2:g.49470645A>G | GRCh38 |
| NC_000010.10:g.50678691A>G , CM000672.1:g.50678691A>G | GRCh37 |
| NC_000010.9:g.50348697A>G | NCBI36 |
| NG_009442.1:g.73457T>C , LRG_465:g.73457T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3315T>C MANE Select | ENSP00000348089.5:p.Asp1105= | |
| ENST00000679552.1:n.386T>C | ||
| ENST00000679871.1:n.461T>C | ||
| ENST00000679974.1:n.364T>C | ||
| ENST00000681632.1:n.4718T>C | ||
| ENST00000681659.1:c.3156T>C | ENSP00000505631.1:p.Asp1052= | |
| ENST00000355832.9:c.3315T>C | ENSP00000348089.5:p.Asp1105= | |
| ENST00000623073.3:c.*1611T>C | ENSP00000485650.1:n.*1611T>C | |
| ENST00000623115.3:c.1425T>C | ENSP00000485321.1:p.Asp475= | |
| ENST00000624341.3:c.1147T>C | ||
| NM_000124.3:c.3315T>C | NP_000115.1:p.Asp1105= | |
| XR_945953.1:n.243-920A>G | ||
| NM_001346440.1:c.3315T>C | NP_001333369.1:p.Asp1105= | |
| NM_000124.4:c.3315T>C MANE Select | NP_000115.1:p.Asp1105= | |
| NM_001346440.2:c.3315T>C | NP_001333369.1:p.Asp1105= |