Linked Data
ClinVar Variation Id:
328563
ClinVar RCV Id:
RCV000359687
dbSNP Id:
rs886054294
gnomAD v2:
19-18005108-C-G
gnomAD v3:
19-17894299-C-G
gnomAD v4:
19-17894299-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17894299C>G , CM000681.2:g.17894299C>G | GRCh38 |
| NC_000019.9:g.18005108C>G , CM000681.1:g.18005108C>G | GRCh37 |
| NC_000019.8:g.17866108C>G | NCBI36 |
| NG_012930.1:g.27327C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.*422C>G MANE Select | ENSP00000222248.2:n.*422C>G | |
| ENST00000222248.3:c.*422C>G | ENSP00000222248.2:n.*422C>G | |
| NM_000453.2:c.*422C>G | NP_000444.1:n.*422C>G | |
| XM_011528192.1:c.*422C>G | XP_011526494.1:n.*422C>G | |
| XM_011528193.1:c.*422C>G | XP_011526495.1:n.*422C>G | |
| XM_011528194.1:c.*422C>G | XP_011526496.1:n.*422C>G | |
| XM_011528192.2:c.*422C>G | XP_011526494.1:n.*422C>G | |
| XM_011528193.3:c.*422C>G | XP_011526495.1:n.*422C>G | |
| XM_011528194.3:c.*422C>G | XP_011526496.1:n.*422C>G | |
| XM_017027158.1:c.*422C>G | XP_016882647.1:n.*422C>G | |
| NM_000453.3:c.*422C>G MANE Select | NP_000444.1:n.*422C>G |