Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160190838G>C , CM000663.2:g.160190838G>C | GRCh38 |
| NC_000001.10:g.160160628G>C , CM000663.1:g.160160628G>C | GRCh37 |
| NC_000001.9:g.158427252G>C | NCBI36 |
| NG_042040.1:g.5344G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.87G>C MANE Select | NP_001222.3:p.Lys29Asn |
| ENST00000368078.8:c.87G>C MANE Select | ENSP00000357057.3:p.Lys29Asn |
| NM_001231.4:c.87G>C | NP_001222.3:p.Lys29Asn |
| ENST00000368078.7:c.87G>C | ENSP00000357057.3:p.Lys29Asn |