Linked Data
ClinVar Variation Id:
12318
dbSNP Id:
rs34231037
ExAC:
4:55972946 A / G
gnomAD v2:
4-55972946-A-G
gnomAD v3:
4-55106779-A-G
gnomAD v4:
4-55106779-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55106779A>G , CM000666.2:g.55106779A>G | GRCh38 |
| NC_000004.11:g.55972946A>G , CM000666.1:g.55972946A>G | GRCh37 |
| NC_000004.10:g.55667703A>G | NCBI36 |
| NG_012004.1:g.23817T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263923.5:c.1444T>C MANE Select | ENSP00000263923.4:p.Cys482Arg | |
| ENST00000647068.1:n.1457T>C | ||
| ENST00000263923.4:c.1444T>C | ENSP00000263923.4:p.Cys482Arg | |
| ENST00000512566.1:n.1444T>C | ||
| NM_002253.2:c.1444T>C | NP_002244.1:p.Cys482Arg | |
| NM_002253.3:c.1444T>C | NP_002244.1:p.Cys482Arg | |
| NM_002253.4:c.1444T>C MANE Select | NP_002244.1:p.Cys482Arg |