Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789743A>G , CM000664.2:g.135789743A>G | GRCh38 |
| NC_000002.11:g.136547313A>G , CM000664.1:g.136547313A>G | GRCh37 |
| NC_000002.10:g.136263783A>G | NCBI36 |
| NG_008104.2:g.70427T>C , LRG_338:g.70427T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.5391T>C MANE Select | NP_002290.2:p.Asn1797= |
| ENST00000264162.7:c.5391T>C MANE Select | ENSP00000264162.2:p.Asn1797= |
| NM_002299.2:c.5391T>C , LRG_338t1:c.5391T>C | NP_002290.2:p.Asn1797= |
| NM_002299.3:c.5391T>C | NP_002290.2:p.Asn1797= |
| ENST00000264162.6:c.5391T>C | ENSP00000264162.2:p.Asn1797= |