Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346573T>G , CM000685.2:g.101346573T>G | GRCh38 |
| NC_000023.10:g.100601561T>G , CM000685.1:g.100601561T>G | GRCh37 |
| NC_000023.9:g.100488217T>G | NCBI36 |
| NG_011734.1:g.7397A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.220A>C MANE Select | ENSP00000361993.3:p.Ser74Arg | |
| ENST00000644112.2:c.*1814A>C | ENSP00000494385.1:n.*1814A>C | |
| ENST00000645279.1:c.*414A>C | ENSP00000494239.1:n.*414A>C | |
| ENST00000647480.1:n.737A>C | ||
| ENST00000372902.3:c.220A>C | ENSP00000361993.3:p.Ser74Arg | |
| NM_004085.3:c.220A>C | NP_004076.1:p.Ser74Arg | |
| NM_004085.4:c.220A>C MANE Select | NP_004076.1:p.Ser74Arg | |
| NM_001145951.2:c.*1814A>C | NP_001139423.1:n.*1814A>C |