Linked Data
ClinVar Variation Id:
726310
dbSNP Id:
rs777448999
ExAC:
2:178936936 C / T
gnomAD v2:
2-178936936-C-T
gnomAD v3:
2-178072209-C-T
gnomAD v4:
2-178072209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178072209C>T , CM000664.2:g.178072209C>T | GRCh38 |
| NC_000002.11:g.178936936C>T , CM000664.1:g.178936936C>T | GRCh37 |
| NC_000002.10:g.178645182C>T | NCBI36 |
| NG_012168.1:g.41131G>A | |
| NG_012168.2:g.41131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.229G>A MANE Select | ENSP00000286063.5:p.Gly77Arg | |
| ENST00000286063.10:c.229G>A | ENSP00000286063.5:p.Gly77Arg | |
| ENST00000358450.8:c.162+32093G>A | ENSP00000351232.4:n.162+32093G>A | |
| NM_001077197.1:c.162+32093G>A | NP_001070665.1:n.162+32093G>A | |
| NM_016953.3:c.229G>A | NP_058649.3:p.Gly77Arg | |
| NM_016953.4:c.229G>A MANE Select | NP_058649.3:p.Gly77Arg | |
| NM_001077197.2:c.162+32093G>A | NP_001070665.1:n.162+32093G>A |