dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100642673A>C , CM000669.2:g.100642673A>C | GRCh38 |
| NC_000007.13:g.100240296A>C , CM000669.1:g.100240296A>C | GRCh37 |
| NC_000007.12:g.100078232A>C | NCBI36 |
| NG_007989.1:g.3878T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462107.1:c.-258+18T>G | ENSP00000420525.1:n.-258+18T>G | |
| ENST00000474947.1:n.89+18T>G | ||
| XM_005250553.3:c.-258+18T>G | XP_005250610.1:n.-258+18T>G | |
| XM_005250554.3:c.-258+18T>G | XP_005250611.1:n.-258+18T>G | |
| XM_005250553.4:c.-258+18T>G | XP_005250610.1:n.-258+18T>G | |
| XM_017012573.1:c.-70+18T>G | XP_016868062.1:n.-70+18T>G |