Linked Data
ClinVar Variation Id:
256200
dbSNP Id:
rs182064161
ExAC:
19:17988683 C / T
gnomAD v2:
19-17988683-C-T
gnomAD v3:
19-17877874-C-T
gnomAD v4:
19-17877874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17877874C>T , CM000681.2:g.17877874C>T | GRCh38 |
| NC_000019.9:g.17988683C>T , CM000681.1:g.17988683C>T | GRCh37 |
| NC_000019.8:g.17849683C>T | NCBI36 |
| NG_012930.1:g.10902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.839+11C>T MANE Select | ENSP00000222248.2:n.839+11C>T | |
| ENST00000222248.3:c.839+11C>T | ENSP00000222248.2:n.839+11C>T | |
| NM_000453.2:c.839+11C>T | NP_000444.1:n.839+11C>T | |
| XM_011528192.1:c.839+11C>T | XP_011526494.1:n.839+11C>T | |
| XM_011528193.1:c.572+11C>T | XP_011526495.1:n.572+11C>T | |
| XM_011528194.1:c.473+11C>T | XP_011526496.1:n.473+11C>T | |
| XM_011528192.2:c.839+11C>T | XP_011526494.1:n.839+11C>T | |
| XM_011528193.3:c.572+11C>T | XP_011526495.1:n.572+11C>T | |
| XM_011528194.3:c.473+11C>T | XP_011526496.1:n.473+11C>T | |
| XM_017027158.1:c.572+11C>T | XP_016882647.1:n.572+11C>T | |
| NM_000453.3:c.839+11C>T MANE Select | NP_000444.1:n.839+11C>T |