Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110428456C>G , CM000675.2:g.110428456C>G | GRCh38 |
| NC_000013.10:g.111080803C>G , CM000675.1:g.111080803C>G | GRCh37 |
| NC_000013.9:g.109878804C>G | NCBI36 |
| NG_032137.1:g.126173C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.361-11C>G MANE Select | ENSP00000353654.5:n.361-11C>G | |
| ENST00000619688.2:c.113-11C>G | ||
| ENST00000650540.1:c.361-11C>G | ENSP00000497878.1:n.361-11C>G | |
| ENST00000360467.5:c.361-11C>G | ENSP00000353654.5:n.361-11C>G | |
| NM_001846.2:c.361-11C>G | NP_001837.2:n.361-11C>G | |
| NM_001846.3:c.361-11C>G | NP_001837.2:n.361-11C>G | |
| NM_001846.4:c.361-11C>G MANE Select | NP_001837.2:n.361-11C>G |