Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43127985C= , CM000684.2:g.43127985C= | GRCh38 |
| NC_000022.10:g.43523991C= , CM000684.1:g.43523991C= | GRCh37 |
| NC_000022.9:g.41853935C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001197.5:c.260+190C= MANE Select | NP_001188.1:n.260+190C= |
| ENST00000216115.3:c.260+190C= MANE Select | ENSP00000216115.2:n.260+190C= |
| NM_001197.4:c.260+190C= | NP_001188.1:n.260+190C= |
| ENST00000216115.2:c.260+190C= | ENSP00000216115.2:n.260+190C= |