Linked Data
ClinVar Variation Id:
2904625
ClinVar RCV Id:
RCV003729363
dbSNP Id:
rs750941783
ExAC:
19:727669 C / T
gnomAD v2:
19-727669-C-T
gnomAD v3:
19-727669-C-T
gnomAD v4:
19-727669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.727669C>T , CM000681.2:g.727669C>T | GRCh38 |
| NC_000019.9:g.727669C>T , CM000681.1:g.727669C>T | GRCh37 |
| NC_000019.8:g.678669C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338448.10:c.244C>T MANE Select | ENSP00000341911.4:p.Arg82Trp | |
| ENST00000264560.11:c.244C>T | ENSP00000264560.7:p.Arg82Trp | |
| ENST00000338448.9:c.244C>T | ENSP00000341911.4:p.Arg82Trp | |
| ENST00000589012.5:n.260C>T | ||
| ENST00000592870.5:n.294C>T | ||
| NM_001040134.1:c.244C>T | NP_001035224.1:p.Arg82Trp | |
| NM_002579.2:c.244C>T | NP_002570.2:p.Arg82Trp | |
| XM_005259565.3:c.250C>T | XP_005259622.1:p.Arg84Trp | |
| XM_005259566.3:c.241C>T | XP_005259623.1:p.Arg81Trp | |
| XM_011528043.1:c.313C>T | XP_011526345.1:p.Arg105Trp | |
| XM_011528044.1:c.313C>T | XP_011526346.1:p.Arg105Trp | |
| XM_005259565.4:c.250C>T | XP_005259622.1:p.Arg84Trp | |
| XM_005259566.4:c.241C>T | XP_005259623.1:p.Arg81Trp | |
| XM_017026850.2:c.250C>T | XP_016882339.1:p.Arg84Trp | |
| NM_002579.3:c.244C>T MANE Select | NP_002570.2:p.Arg82Trp | |
| NM_001040134.2:c.244C>T | NP_001035224.1:p.Arg82Trp |