Linked Data
dbSNP Id:
rs2148415028
gnomAD v3:
2-29071073-A-C
gnomAD v4:
2-29071073-A-C
COSMIC:
COSM6394062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071073A>C , CM000664.2:g.29071073A>C | GRCh38 |
| NC_000002.11:g.29293939A>C , CM000664.1:g.29293939A>C | GRCh37 |
| NC_000002.10:g.29147443A>C | NCBI36 |
| NG_021427.1:g.8189T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3189T>G MANE Select | ENSP00000332809.4:p.Ser1063Arg | |
| ENST00000331664.5:c.3189T>G | ENSP00000332809.4:p.Ser1063Arg | |
| NM_001029883.2:c.3189T>G | NP_001025054.1:p.Ser1063Arg | |
| XM_011532826.1:c.3189T>G | XP_011531128.1:p.Ser1063Arg | |
| XR_939901.1:n.185+1906A>C | ||
| XR_939902.1:n.173+1918A>C | ||
| NM_001029883.3:c.3189T>G MANE Select | NP_001025054.1:p.Ser1063Arg |