dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28887369T>C , CM000665.2:g.28887369T>C | GRCh38 |
| NC_000003.11:g.28928860T>C , CM000665.1:g.28928860T>C | GRCh37 |
| NC_000003.10:g.28903864T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635992.1:c.*408+22077T>C | ENSP00000489994.1:n.*408+22077T>C | |
| ENST00000636582.1:n.238+22077T>C | ||
| ENST00000636680.2:c.282+22077T>C | ENSP00000490271.2:n.282+22077T>C | |
| ENST00000636900.1:n.238+22077T>C | ||
| ENST00000637842.1:c.70-11115T>C | ENSP00000489718.1:n.70-11115T>C |