dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24797878T>C , CM000666.2:g.24797878T>C | GRCh38 |
| NC_000004.11:g.24799500T>C , CM000666.1:g.24799500T>C | GRCh37 |
| NC_000004.10:g.24408598T>C | NCBI36 |
| NG_012213.1:g.7416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.-16-1628T>C MANE Select | ENSP00000371554.3:n.-16-1628T>C | |
| ENST00000382120.3:c.-16-1628T>C | ENSP00000371554.3:n.-16-1628T>C | |
| ENST00000598411.1:c.-16-1628T>C | ENSP00000472134.1:n.-16-1628T>C | |
| NM_003102.2:c.-16-1628T>C | NP_003093.2:n.-16-1628T>C | |
| XR_427488.1:n.175-1628T>C | ||
| NM_003102.3:c.-16-1628T>C | NP_003093.2:n.-16-1628T>C | |
| NM_003102.4:c.-16-1628T>C MANE Select | NP_003093.2:n.-16-1628T>C |