Linked Data
dbSNP Id:
rs753413000
ExAC:
3:112185008 T / G
gnomAD v2:
3-112185008-T-G
gnomAD v4:
3-112466161-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.112466161T>G , CM000665.2:g.112466161T>G | GRCh38 |
| NC_000003.11:g.112185008T>G , CM000665.1:g.112185008T>G | GRCh37 |
| NC_000003.10:g.113667698T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334529.10:c.817A>C MANE Select | ENSP00000333919.5:p.Arg273= | |
| ENST00000334529.9:c.817A>C | ENSP00000333919.5:p.Arg273= | |
| ENST00000383680.4:c.673A>C | ENSP00000373178.4:p.Arg225= | |
| ENST00000474965.1:n.321A>C | ||
| NM_001085357.1:c.673A>C | NP_001078826.1:p.Arg225= | |
| NM_181780.3:c.817A>C | NP_861445.3:p.Arg273= | |
| XM_011512446.1:c.835A>C | XP_011510748.1:p.Arg279= | |
| XM_011512447.1:c.835A>C | XP_011510749.1:p.Arg279= | |
| XM_011512447.3:c.835A>C | XP_011510749.1:p.Arg279= | |
| XM_017005748.2:c.817A>C | XP_016861237.1:p.Arg273= | |
| NM_181780.4:c.817A>C MANE Select | NP_861445.4:p.Arg273= | |
| NM_001085357.2:c.673A>C | NP_001078826.1:p.Arg225= |