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