Linked Data
ClinVar Variation Id:
877367
ClinVar RCV Id:
RCV001103015
dbSNP Id:
rs561685019
gnomAD v2:
11-44284805-G-A
gnomAD v3:
11-44263255-G-A
gnomAD v4:
11-44263255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44263255G>A , CM000673.2:g.44263255G>A | GRCh38 |
| NC_000011.9:g.44284805G>A , CM000673.1:g.44284805G>A | GRCh37 |
| NC_000011.8:g.44241381G>A | NCBI36 |
| NG_015809.1:g.51912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.*1599C>T MANE Select | ENSP00000498217.1:n.*1599C>T | |
| ENST00000329255.3:c.*1599C>T | ENSP00000332744.3:n.*1599C>T | |
| NM_021926.3:c.*1599C>T | NP_068745.2:n.*1599C>T | |
| XM_011520265.1:c.*1599C>T | XP_011518567.1:n.*1599C>T | |
| XM_011520266.1:c.*1599C>T | XP_011518568.1:n.*1599C>T | |
| NM_021926.4:c.*1599C>T MANE Select | NP_068745.2:n.*1599C>T |