Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173302G>C , CM000678.2:g.173302G>C | GRCh38 |
| NC_000016.9:g.223301G>C , CM000678.1:g.223301G>C | GRCh37 |
| NC_000016.8:g.163301G>C | NCBI36 |
| NG_000006.1:g.34165G>C | |
| NG_059186.1:g.1652G>C | |
| NG_059271.1:g.5456G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.273G>C MANE Select | ENSP00000251595.6:p.Lys91Asn | |
| ENST00000251595.10:c.273G>C | ENSP00000251595.6:p.Lys91Asn | |
| ENST00000397806.1:c.177G>C | ENSP00000380908.1:p.Lys59Asn | |
| ENST00000482565.1:n.409G>C | ||
| ENST00000484216.1:n.242G>C | ||
| NM_000517.4:c.273G>C | NP_000508.1:p.Lys91Asn | |
| NM_000517.6:c.273G>C MANE Select | NP_000508.1:p.Lys91Asn |