Linked Data
ClinVar Variation Id:
356108
ClinVar RCV Id:
RCV000398409
dbSNP Id:
rs528907381
gnomAD v2:
6-18130485-C-T
gnomAD v3:
6-18130254-C-T
gnomAD v4:
6-18130254-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130254C>T , CM000668.2:g.18130254C>T | GRCh38 |
| NC_000006.11:g.18130485C>T , CM000668.1:g.18130485C>T | GRCh37 |
| NC_000006.10:g.18238464C>T | NCBI36 |
| NG_012137.2:g.29890G>A | |
| NG_012137.3:g.29890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.*414G>A MANE Select | ENSP00000312304.4:n.*414G>A | |
| ENST00000309983.4:c.*414G>A | ENSP00000312304.4:n.*414G>A | |
| NM_000367.3:c.*414G>A | NP_000358.1:n.*414G>A | |
| XM_011514839.1:c.*414G>A | XP_011513141.1:n.*414G>A | |
| XM_011514840.1:c.*414G>A | XP_011513142.1:n.*414G>A | |
| NM_000367.4:c.*414G>A | NP_000358.1:n.*414G>A | |
| NM_001346817.1:c.*414G>A | NP_001333746.1:n.*414G>A | |
| NM_001346818.1:c.*414G>A | NP_001333747.1:n.*414G>A | |
| NM_000367.5:c.*414G>A MANE Select | NP_000358.1:n.*414G>A |