Linked Data
ClinVar Variation Id:
2733140
ClinVar RCV Id:
RCV003511425
dbSNP Id:
rs1033763029
gnomAD v2:
12-115112440-C-T
gnomAD v3:
12-114674635-C-T
gnomAD v4:
12-114674635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674635C>T , CM000674.2:g.114674635C>T | GRCh38 |
| NC_000012.11:g.115112440C>T , CM000674.1:g.115112440C>T | GRCh37 |
| NC_000012.10:g.113596823C>T | NCBI36 |
| NG_008315.1:g.14530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1240G>A MANE Select | ENSP00000257567.2:p.Asp414Asn | |
| ENST00000257566.7:c.1300G>A | ENSP00000257566.3:p.Asp434Asn | |
| ENST00000349155.6:c.1240G>A | ENSP00000257567.2:p.Asp414Asn | |
| ENST00000613550.1:c.1240G>A | ENSP00000480048.1:p.Asp414Asn | |
| NM_005996.3:c.1240G>A | NP_005987.3:p.Asp414Asn | |
| NM_016569.3:c.1300G>A | NP_057653.3:p.Asp434Asn | |
| NM_005996.4:c.1240G>A MANE Select | NP_005987.3:p.Asp414Asn | |
| NM_016569.4:c.1300G>A | NP_057653.3:p.Asp434Asn |