Linked Data
dbSNP Id:
rs758426250
ExAC:
19:54385894 G / C
gnomAD v2:
19-54385894-G-C
gnomAD v4:
19-53882640-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882640G>C , CM000681.2:g.53882640G>C | GRCh38 |
| NC_000019.9:g.54385894G>C , CM000681.1:g.54385894G>C | GRCh37 |
| NC_000019.8:g.59077706G>C | NCBI36 |
| NG_009114.1:g.5428G>C , LRG_669:g.5428G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.146G>C | ENSP00000507230.1:p.Cys49Ser | |
| ENST00000682268.1:n.444G>C | ||
| ENST00000682902.1:n.448G>C | ||
| ENST00000683513.1:c.146G>C | ENSP00000506809.1:p.Cys49Ser | |
| ENST00000263431.4:c.146G>C MANE Select | ENSP00000263431.3:p.Cys49Ser | |
| ENST00000263431.3:c.146G>C | ENSP00000263431.3:p.Cys49Ser | |
| ENST00000419486.1:c.-239G>C | ENSP00000387919.2:n.-239G>C | |
| ENST00000474397.5:c.-239G>C | ENSP00000471271.1:n.-239G>C | |
| ENST00000479081.5:c.-239G>C | ENSP00000471544.1:n.-239G>C | |
| NM_001316329.1:c.146G>C | NP_001303258.1:p.Cys49Ser | |
| NM_002739.3:c.146G>C , LRG_669t1:c.146G>C | NP_002730.1:p.Cys49Ser | |
| NM_002739.4:c.146G>C | NP_002730.1:p.Cys49Ser | |
| NM_002739.5:c.146G>C MANE Select | NP_002730.1:p.Cys49Ser | |
| NM_001316329.2:c.146G>C | NP_001303258.1:p.Cys49Ser |