Linked Data
ClinVar Variation Id:
6833
dbSNP Id:
rs104894675
ExAC:
19:39994770 C / T
gnomAD v2:
19-39994770-C-T
gnomAD v3:
19-39504130-C-T
gnomAD v4:
19-39504130-C-T
PubMed:
PMID:12791036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504130C>T , CM000681.2:g.39504130C>T | GRCh38 |
| NC_000019.9:g.39994770C>T , CM000681.1:g.39994770C>T | GRCh37 |
| NC_000019.8:g.44686610C>T | NCBI36 |
| NG_008256.1:g.10214C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356433.10:c.712C>T MANE Select | ENSP00000348810.4:p.Arg238Ter | |
| ENST00000205143.4:c.712C>T | ENSP00000205143.3:p.Arg238Ter | |
| ENST00000356433.9:c.712C>T | ENSP00000348810.4:p.Arg238Ter | |
| ENST00000596614.5:c.410-2909C>T | ENSP00000471688.1:n.410-2909C>T | |
| ENST00000600437.1:n.792C>T | ||
| NM_016941.3:c.712C>T | NP_058637.1:p.Arg238Ter | |
| NM_203486.2:c.712C>T | NP_982353.1:p.Arg238Ter | |
| NM_016941.4:c.712C>T | NP_058637.1:p.Arg238Ter | |
| NM_203486.3:c.712C>T MANE Select | NP_982353.1:p.Arg238Ter |