dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116459133C>T , CM000685.2:g.116459133C>T | GRCh38 |
| NC_000023.10:g.115590299C>T , CM000685.1:g.115590299C>T | GRCh37 |
| NC_000023.9:g.115504327C>T | NCBI36 |
| NG_021305.2:g.27547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598581.3:c.*178C>T MANE Select | ENSP00000470801.1:n.*178C>T | |
| ENST00000598581.2:c.*178C>T | ENSP00000470801.1:n.*178C>T | |
| NM_007231.4:c.*178C>T | NP_009162.1:n.*178C>T | |
| NM_007231.5:c.*178C>T MANE Select | NP_009162.1:n.*178C>T |