Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086238C>A , CM000672.2:g.103086238C>A | GRCh38 |
| NC_000010.10:g.104845995C>A , CM000672.1:g.104845995C>A | GRCh37 |
| NC_000010.9:g.104835985C>A | NCBI36 |
| NG_042272.1:g.112069G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9058C>A MANE Select | ENSP00000358894.3:n.*9058C>A | |
| ENST00000369878.8:c.*9058C>A | ENSP00000358894.3:n.*9058C>A | |
| XR_001747118.1:n.11939C>A | ||
| XR_001747121.1:n.11903C>A | ||
| NM_017649.5:c.*9058C>A MANE Select | NP_060119.3:n.*9058C>A | |
| NM_199076.3:c.*9058C>A | NP_951058.1:n.*9058C>A |