Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816168G>A , CM000681.2:g.4816168G>A | GRCh38 |
| NC_000019.9:g.4816180G>A , CM000681.1:g.4816180G>A | GRCh37 |
| NC_000019.8:g.4767180G>A | NCBI36 |
| NG_031998.1:g.20575C>T , LRG_358:g.20575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*71C>T MANE Select | ENSP00000248244.4:n.*71C>T | |
| ENST00000248244.5:c.*71C>T | ENSP00000248244.4:n.*71C>T | |
| NM_182919.3:c.*71C>T , LRG_358t1:c.*71C>T | NP_891549.1:n.*71C>T | |
| NM_001385678.1:c.*71C>T | NP_001372607.1:n.*71C>T | |
| NM_001385679.1:c.*71C>T | NP_001372608.1:n.*71C>T | |
| NM_001385680.1:c.*71C>T | NP_001372609.1:n.*71C>T | |
| NM_182919.4:c.*71C>T MANE Select | NP_891549.1:n.*71C>T |