dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69651969C>T , CM000673.2:g.69651969C>T | GRCh38 |
| NC_000011.9:g.69466737C>T , CM000673.1:g.69466737C>T | GRCh37 |
| NC_000011.8:g.69175918C>T | NCBI36 |
| NG_007375.1:g.15865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.*687C>T MANE Select | ENSP00000227507.2:n.*687C>T | |
| ENST00000227507.2:c.*687C>T | ENSP00000227507.2:n.*687C>T | |
| NM_053056.2:c.*687C>T | NP_444284.1:n.*687C>T | |
| XM_006718653.2:c.*687C>T | XP_006718716.1:n.*687C>T | |
| NM_053056.3:c.*687C>T MANE Select | NP_444284.1:n.*687C>T |