Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11806126C= , CM000663.2:g.11806126C= | GRCh38 |
| NC_000001.10:g.11866183C= , CM000663.1:g.11866183C= | GRCh37 |
| NC_000001.9:g.11788770C= | NCBI36 |
| NG_008766.1:g.4977C= | |
| NG_013351.1:g.4978G= , LRG_726:g.4978G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001256959.1:c.-137C= (CLCN6) | NP_001243888.1:n.-137C= |
| NM_001286.3:c.-137C= (CLCN6) | NP_001277.1:n.-137C= |
| NR_046428.1:n.31C= (CLCN6) | |
| ENST00000312413.10:c.-137C= (CLCN6) | ENSP00000308367.7:n.-137C= |
| ENST00000376486.2:c.-252G= (MTHFR) | ENSP00000365669.2:n.-252G= |
| ENST00000641747.1:c.-252G= (MTHFR) | ENSP00000493116.1:n.-252G= |