Linked Data
ClinVar Variation Id:
783473
ClinVar RCV Id:
RCV000965020
dbSNP Id:
rs34390841
ExAC:
6:130031188 C / T
gnomAD v2:
6-130031188-C-T
gnomAD v3:
6-129710043-C-T
gnomAD v4:
6-129710043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129710043C>T , CM000668.2:g.129710043C>T | GRCh38 |
| NC_000006.11:g.130031188C>T , CM000668.1:g.130031188C>T | GRCh37 |
| NC_000006.10:g.130072881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368149.3:c.94G>A MANE Select | ENSP00000357131.2:p.Gly32Arg | |
| ENST00000368149.2:c.94G>A | ENSP00000357131.2:p.Gly32Arg | |
| NM_033515.2:c.94G>A | NP_277050.2:p.Gly32Arg | |
| XM_005267213.1:c.94G>A | XP_005267270.1:p.Gly32Arg | |
| NM_033515.3:c.94G>A MANE Select | NP_277050.2:p.Gly32Arg |