Linked Data
ClinVar Variation Id:
30439
ClinVar RCV Id:
RCV000023392
dbSNP Id:
rs183501729
ExAC:
12:21349909 C / T
gnomAD v2:
12-21349909-C-T
gnomAD v3:
12-21196975-C-T
gnomAD v4:
12-21196975-C-T
PubMed:
PMID:22232210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196975C>T , CM000674.2:g.21196975C>T | GRCh38 |
| NC_000012.11:g.21349909C>T , CM000674.1:g.21349909C>T | GRCh37 |
| NC_000012.10:g.21241176C>T | NCBI36 |
| NG_011745.1:g.70782C>T , LRG_1022:g.70782C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.757C>T MANE Select | ENSP00000256958.2:p.Arg253Ter | |
| ENST00000256958.2:c.757C>T | ENSP00000256958.2:p.Arg253Ter | |
| NM_006446.4:c.757C>T , LRG_1022t1:c.757C>T | NP_006437.3:p.Arg253Ter | |
| NM_006446.5:c.757C>T MANE Select | NP_006437.3:p.Arg253Ter |