Linked Data
ClinVar Variation Id:
328533
ClinVar RCV Id:
RCV000281687
dbSNP Id:
rs370383956
ExAC:
19:17983380 C / T
gnomAD v2:
19-17983380-C-T
gnomAD v3:
19-17872571-C-T
gnomAD v4:
19-17872571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17872571C>T , CM000681.2:g.17872571C>T | GRCh38 |
| NC_000019.9:g.17983380C>T , CM000681.1:g.17983380C>T | GRCh37 |
| NC_000019.8:g.17844380C>T | NCBI36 |
| NG_012930.1:g.5599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.252C>T MANE Select | ENSP00000222248.2:p.Gly84= | |
| ENST00000222248.3:c.252C>T | ENSP00000222248.2:p.Gly84= | |
| NM_000453.2:c.252C>T | NP_000444.1:p.Gly84= | |
| XM_011528192.1:c.252C>T | XP_011526494.1:p.Gly84= | |
| XM_011528193.1:c.-16C>T | XP_011526495.1:n.-16C>T | |
| XM_011528192.2:c.252C>T | XP_011526494.1:p.Gly84= | |
| XM_011528193.3:c.-16C>T | XP_011526495.1:n.-16C>T | |
| XM_017027158.1:c.-16C>T | XP_016882647.1:n.-16C>T | |
| NM_000453.3:c.252C>T MANE Select | NP_000444.1:p.Gly84= |