dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18042430A>G , CM000673.2:g.18042430A>G | GRCh38 |
| NC_000011.9:g.18063977A>G , CM000673.1:g.18063977A>G | GRCh37 |
| NC_000011.8:g.18020553A>G | NCBI36 |
| NG_011947.1:g.3359T>C | |
| NG_011947.2:g.3359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682019.1:c.-26-1642T>C MANE Select | ENSP00000508368.1:n.-26-1642T>C | |
| NM_004179.3:c.-26-1642T>C MANE Select | NP_004170.1:n.-26-1642T>C |