Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296980C>A , CM000664.2:g.29296980C>A | GRCh38 |
| NC_000002.11:g.29519846C>A , CM000664.1:g.29519846C>A | GRCh37 |
| NC_000002.10:g.29373350C>A | NCBI36 |
| NG_009445.1:g.629587G>T , LRG_488:g.629587G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1725G>T MANE Select | NP_004295.2:p.Lys575Asn |
| ENST00000389048.8:c.1725G>T MANE Select | ENSP00000373700.3:p.Lys575Asn |
| NM_004304.4:c.1725G>T | NP_004295.2:p.Lys575Asn |
| ENST00000389048.7:c.1725G>T | ENSP00000373700.3:p.Lys575Asn |
| ENST00000498037.1:n.280G>T | |
| ENST00000618119.4:c.594G>T | ENSP00000482733.1:p.Lys198Asn |
| XR_001738688.2:n.2655G>T |