dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135036995T>G , CM000667.2:g.135036995T>G | GRCh38 |
| NC_000005.9:g.134372685T>G , CM000667.1:g.134372685T>G | GRCh37 |
| NC_000005.8:g.134400584T>G | NCBI36 |
| NG_012114.1:g.2280A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-562+3455T>G | NP_001264277.1:n.-562+3455T>G | |
| NR_161235.1:n.267+3455T>G |