Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278311C>G , CM000678.2:g.2278311C>G | GRCh38 |
| NC_000016.9:g.2328312C>G , CM000678.1:g.2328312C>G | GRCh37 |
| NC_000016.8:g.2268313C>G | NCBI36 |
| NG_011790.1:g.67436G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4695G>C MANE Select | ENSP00000301732.5:p.Lys1565Asn | |
| ENST00000301732.9:c.4695G>C | ENSP00000301732.5:p.Lys1565Asn | |
| ENST00000382381.7:c.4521G>C | ENSP00000371818.3:p.Lys1507Asn | |
| ENST00000566200.1:n.1216G>C | ||
| NM_001089.2:c.4695G>C | NP_001080.2:p.Lys1565Asn | |
| NM_001089.3:c.4695G>C MANE Select | NP_001080.2:p.Lys1565Asn |