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