Linked Data
ClinVar Variation Id:
2313288
ClinVar RCV Id:
RCV002892535
dbSNP Id:
rs780307456
ExAC:
3:49059915 G / C
gnomAD v2:
3-49059915-G-C
gnomAD v3:
3-49022482-G-C
gnomAD v4:
3-49022482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49022482G>C , CM000665.2:g.49022482G>C | GRCh38 |
| NC_000003.11:g.49059915G>C , CM000665.1:g.49059915G>C | GRCh37 |
| NC_000003.10:g.49034919G>C | NCBI36 |
| NG_012091.1:g.11961C>G | |
| NG_016282.1:g.7008G>C | |
| NG_033126.1:g.3590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326925.11:c.214G>C MANE Select | ENSP00000323076.5:p.Gly72Arg | |
| ENST00000326912.8:c.43G>C | ENSP00000323003.4:p.Gly15Arg | |
| ENST00000326925.10:c.214G>C | ENSP00000323076.5:p.Gly72Arg | |
| ENST00000395458.6:c.43G>C | ENSP00000378843.2:p.Gly15Arg | |
| ENST00000451378.2:c.43G>C | ENSP00000402465.2:p.Gly15Arg | |
| ENST00000480392.1:n.238G>C | ||
| ENST00000496152.1:n.370G>C | ||
| NM_199069.1:c.214G>C | NP_951032.1:p.Gly72Arg | |
| NM_199070.1:c.43G>C | NP_951033.1:p.Gly15Arg | |
| NM_199073.1:c.43G>C | NP_951047.1:p.Gly15Arg | |
| NM_199074.1:c.43G>C | NP_951056.1:p.Gly15Arg | |
| NM_199069.2:c.214G>C MANE Select | NP_951032.1:p.Gly72Arg | |
| NM_199070.2:c.43G>C | NP_951033.1:p.Gly15Arg | |
| NM_199073.2:c.43G>C | NP_951047.1:p.Gly15Arg | |
| NM_199074.2:c.43G>C | NP_951056.1:p.Gly15Arg |