Linked Data
ClinVar Variation Id:
328568
ClinVar RCV Id:
RCV000327930
dbSNP Id:
rs138127009
gnomAD v2:
19-18005516-C-T
gnomAD v3:
19-17894707-C-T
gnomAD v4:
19-17894707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17894707C>T , CM000681.2:g.17894707C>T | GRCh38 |
| NC_000019.9:g.18005516C>T , CM000681.1:g.18005516C>T | GRCh37 |
| NC_000019.8:g.17866516C>T | NCBI36 |
| NG_012930.1:g.27735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.*830C>T MANE Select | ENSP00000222248.2:n.*830C>T | |
| ENST00000222248.3:c.*830C>T | ENSP00000222248.2:n.*830C>T | |
| NM_000453.2:c.*830C>T | NP_000444.1:n.*830C>T | |
| XM_011528192.1:c.*830C>T | XP_011526494.1:n.*830C>T | |
| XM_011528193.1:c.*830C>T | XP_011526495.1:n.*830C>T | |
| XM_011528194.1:c.*830C>T | XP_011526496.1:n.*830C>T | |
| XM_011528192.2:c.*830C>T | XP_011526494.1:n.*830C>T | |
| XM_011528193.3:c.*830C>T | XP_011526495.1:n.*830C>T | |
| XM_011528194.3:c.*830C>T | XP_011526496.1:n.*830C>T | |
| XM_017027158.1:c.*830C>T | XP_016882647.1:n.*830C>T | |
| NM_000453.3:c.*830C>T MANE Select | NP_000444.1:n.*830C>T |