Linked Data
dbSNP Id:
rs763269788
ExAC:
19:54393174 T / C
gnomAD v2:
19-54393174-T-C
gnomAD v4:
19-53889920-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889920T>C , CM000681.2:g.53889920T>C | GRCh38 |
| NC_000019.9:g.54393174T>C , CM000681.1:g.54393174T>C | GRCh37 |
| NC_000019.8:g.59084986T>C | NCBI36 |
| NG_009114.1:g.12708T>C , LRG_669:g.12708T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.432T>C | ENSP00000507230.1:p.Arg144= | |
| ENST00000682268.1:n.730T>C | ||
| ENST00000682902.1:n.734T>C | ||
| ENST00000683513.1:c.432T>C | ENSP00000506809.1:p.Arg144= | |
| ENST00000263431.4:c.432T>C MANE Select | ENSP00000263431.3:p.Arg144= | |
| ENST00000263431.3:c.432T>C | ENSP00000263431.3:p.Arg144= | |
| ENST00000419486.1:c.48T>C | ENSP00000387919.2:p.Arg16= | |
| ENST00000474397.5:c.48T>C | ENSP00000471271.1:p.Arg16= | |
| ENST00000479081.5:c.48T>C | ENSP00000471544.1:p.Arg16= | |
| NM_001316329.1:c.432T>C | NP_001303258.1:p.Arg144= | |
| NM_002739.3:c.432T>C , LRG_669t1:c.432T>C | NP_002730.1:p.Arg144= | |
| NM_002739.4:c.432T>C | NP_002730.1:p.Arg144= | |
| NM_002739.5:c.432T>C MANE Select | NP_002730.1:p.Arg144= | |
| NM_001316329.2:c.432T>C | NP_001303258.1:p.Arg144= |