Linked Data
ClinVar Variation Id:
3829
dbSNP Id:
rs28940872
ExAC:
12:121177159 C / T
gnomAD v2:
12-121177159-C-T
gnomAD v3:
12-120739356-C-T
gnomAD v4:
12-120739356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739356C>T , CM000674.2:g.120739356C>T | GRCh38 |
| NC_000012.11:g.121177159C>T , CM000674.1:g.121177159C>T | GRCh37 |
| NC_000012.10:g.119661542C>T | NCBI36 |
| NG_007991.1:g.18589C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1147C>T MANE Select | ENSP00000242592.4:p.Arg383Cys | |
| ENST00000242592.8:c.1147C>T | ENSP00000242592.4:p.Arg383Cys | |
| ENST00000411593.2:c.1135C>T | ENSP00000401045.2:p.Arg379Cys | |
| NM_000017.3:c.1147C>T | NP_000008.1:p.Arg383Cys | |
| NM_001302554.1:c.1135C>T | NP_001289483.1:p.Arg379Cys | |
| NM_000017.4:c.1147C>T MANE Select | NP_000008.1:p.Arg383Cys | |
| NM_001302554.2:c.1135C>T | NP_001289483.1:p.Arg379Cys |