Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028064T>G , CM000666.2:g.52028064T>G | GRCh38 |
| NC_000004.11:g.52894230T>G , CM000666.1:g.52894230T>G | GRCh37 |
| NC_000004.10:g.52588987T>G | NCBI36 |
| NG_008891.1:g.15256A>C , LRG_204:g.15256A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.657A>C MANE Select | ENSP00000370839.6:p.Lys219Asn | |
| ENST00000381431.9:c.657A>C | ENSP00000370839.5:p.Lys219Asn | |
| NM_000232.4:c.657A>C , LRG_204t1:c.657A>C | NP_000223.1:p.Lys219Asn | |
| XM_006714049.2:c.360A>C | XP_006714112.1:p.Lys120Asn | |
| XM_011534403.1:c.447A>C | XP_011532705.1:p.Lys149Asn | |
| XM_011534404.1:c.360A>C | XP_011532706.1:p.Lys120Asn | |
| NM_000232.5:c.657A>C MANE Select | NP_000223.1:p.Lys219Asn |