Linked Data
ClinVar Variation Id:
335742
ClinVar RCV Id:
RCV000400774
dbSNP Id:
rs567451050
gnomAD v2:
2-31557879-G-T
gnomAD v3:
2-31335013-G-T
gnomAD v4:
2-31335013-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31335013G>T , CM000664.2:g.31335013G>T | GRCh38 |
| NC_000002.11:g.31557879G>T , CM000664.1:g.31557879G>T | GRCh37 |
| NC_000002.10:g.31411383G>T | NCBI36 |
| NG_008871.1:g.84733C>A | |
| NG_008871.2:g.84733C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.*945C>A MANE Select | ENSP00000368727.3:n.*945C>A | |
| ENST00000379416.3:c.*945C>A | ENSP00000368727.3:n.*945C>A | |
| NM_000379.3:c.*945C>A | NP_000370.2:n.*945C>A | |
| XM_011533095.1:c.*945C>A | XP_011531397.1:n.*945C>A | |
| XM_011533095.2:c.*945C>A | XP_011531397.1:n.*945C>A | |
| NM_000379.4:c.*945C>A MANE Select | NP_000370.2:n.*945C>A |