Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116696C>G , CM000663.2:g.206116696C>G | GRCh38 |
| NC_000001.10:g.206224635G>C , CM000663.1:g.206224635G>C | GRCh37 |
| NC_000001.9:g.204391258G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000707.5:c.195G>C MANE Select | NP_000698.1:p.Lys65Asn |
| ENST00000367126.5:c.195G>C MANE Select | ENSP00000356094.4:p.Lys65Asn |
| NM_000707.3:c.195G>C | NP_000698.1:p.Lys65Asn |
| NM_000707.4:c.195G>C | NP_000698.1:p.Lys65Asn |
| ENST00000367126.4:c.195G>C | ENSP00000356094.4:p.Lys65Asn |
| ENST00000612906.1:n.36+968G>C |