dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139326219T>C , CM000665.2:g.139326219T>C | GRCh38 |
| NC_000003.11:g.139045061T>C , CM000665.1:g.139045061T>C | GRCh37 |
| NC_000003.10:g.140527751T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684961.1:c.-42-21941T>C | ENSP00000508439.1:n.-42-21941T>C | |
| ENST00000687538.1:c.-38-20659T>C | ENSP00000508887.1:n.-38-20659T>C | |
| ENST00000688697.1:c.-71-17737T>C | ENSP00000510396.1:n.-71-17737T>C | |
| ENST00000489521.1:n.489-17737T>C | ||
| ENST00000495075.5:c.-71-17737T>C | ENSP00000418008.1:n.-71-17737T>C | |
| ENST00000495225.1:c.83-20659T>C | ENSP00000417104.1:n.83-20659T>C |