Linked Data
ClinVar Variation Id:
307933
ClinVar RCV Id:
RCV000391938
dbSNP Id:
rs773434165
ExAC:
12:21327598 G / T
gnomAD v2:
12-21327598-G-T
gnomAD v3:
12-21174664-G-T
gnomAD v4:
12-21174664-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174664G>T , CM000674.2:g.21174664G>T | GRCh38 |
| NC_000012.11:g.21327598G>T , CM000674.1:g.21327598G>T | GRCh37 |
| NC_000012.10:g.21218865G>T | NCBI36 |
| NG_011745.1:g.48471G>T , LRG_1022:g.48471G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.314G>T MANE Select | ENSP00000256958.2:p.Gly105Val | |
| ENST00000256958.2:c.314G>T | ENSP00000256958.2:p.Gly105Val | |
| ENST00000543498.5:c.426-2112G>T | ||
| NM_006446.4:c.314G>T , LRG_1022t1:c.314G>T | NP_006437.3:p.Gly105Val | |
| NM_006446.5:c.314G>T MANE Select | NP_006437.3:p.Gly105Val |