Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734417C>T , CM000679.2:g.4734417C>T | GRCh38 |
| NC_000017.10:g.4637712C>T , CM000679.1:g.4637712C>T | GRCh37 |
| NC_000017.9:g.4584461C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*86G>A MANE Select | ENSP00000293778.7:n.*86G>A | |
| ENST00000574412.6:c.*189G>A | ENSP00000459592.2:n.*189G>A | |
| ENST00000293778.10:c.*86G>A | ENSP00000293778.6:n.*86G>A | |
| ENST00000574412.5:c.*189G>A | ENSP00000459592.1:n.*189G>A | |
| ENST00000576153.5:n.642G>A | ||
| NM_022059.3:c.*86G>A | NP_071342.2:n.*86G>A | |
| NM_022059.4:c.*86G>A | NP_071342.2:n.*86G>A | |
| NM_001386809.1:c.*86G>A MANE Select | NP_001373738.1:n.*86G>A |