Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110424718T>C , CM000675.2:g.110424718T>C | GRCh38 |
| NC_000013.10:g.111077065T>C , CM000675.1:g.111077065T>C | GRCh37 |
| NC_000013.9:g.109875066T>C | NCBI36 |
| NG_032137.1:g.122435T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.181-16T>C MANE Select | NP_001837.2:n.181-16T>C |
| ENST00000360467.7:c.181-16T>C MANE Select | ENSP00000353654.5:n.181-16T>C |
| NM_001846.2:c.181-16T>C | NP_001837.2:n.181-16T>C |
| NM_001846.3:c.181-16T>C | NP_001837.2:n.181-16T>C |
| ENST00000360467.5:c.181-16T>C | ENSP00000353654.5:n.181-16T>C |
| ENST00000400163.6:c.181-16T>C | ENSP00000383027.2:n.181-16T>C |
| ENST00000400163.7:c.181-16T>C | ENSP00000383027.3:n.181-16T>C |
| ENST00000650540.1:c.181-16T>C | ENSP00000497878.1:n.181-16T>C |