Linked Data
ClinVar Variation Id:
504574
dbSNP Id:
rs142749099
ExAC:
19:3590164 C / T
gnomAD v2:
19-3590164-C-T
gnomAD v3:
19-3590166-C-T
gnomAD v4:
19-3590166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3590166C>T , CM000681.2:g.3590166C>T | GRCh38 |
| NC_000019.9:g.3590164C>T , CM000681.1:g.3590164C>T | GRCh37 |
| NC_000019.8:g.3541164C>T | NCBI36 |
| NG_031943.1:g.9596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644452.3:c.915C>T MANE Select | ENSP00000493901.2:p.Gly305= | |
| ENST00000644946.1:c.928C>T | ENSP00000495068.1:p.Arg310Ter | |
| ENST00000322315.5:c.915C>T | ENSP00000319254.5:p.Gly305= | |
| NM_133261.2:c.915C>T | NP_573568.1:p.Gly305= | |
| XM_005259492.2:c.928C>T | XP_005259549.1:p.Arg310Ter | |
| XM_005259492.3:c.928C>T | XP_005259549.1:p.Arg310Ter | |
| NM_133261.3:c.915C>T MANE Select | NP_573568.1:p.Gly305= |