Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74927249A>T , CM000679.2:g.74927249A>T | GRCh38 |
| NC_000017.10:g.72923344A>T , CM000679.1:g.72923344A>T | GRCh37 |
| NC_000017.9:g.70434939A>T | NCBI36 |
| NG_007882.1:g.1008T>A | |
| NG_033062.1:g.7975A>T | |
| NG_007882.2:g.1015T>A | |
| NG_033062.2:g.7975A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331427.9:c.477A>T MANE Select | ENSP00000332528.4:p.Lys159Asn | |
| ENST00000580223.2:c.450+1557A>T | ENSP00000463837.2:n.450+1557A>T | |
| ENST00000331427.8:c.477A>T | ENSP00000332528.4:p.Lys159Asn | |
| ENST00000580223.1:c.477A>T | ENSP00000463837.1:p.Lys159Asn | |
| ENST00000584711.5:n.569A>T | ||
| NM_178160.2:c.477A>T | NP_835454.1:p.Lys159Asn | |
| XM_011525479.1:c.477A>T | XP_011523781.1:p.Lys159Asn | |
| XM_011525479.2:c.477A>T | XP_011523781.1:p.Lys159Asn | |
| NM_178160.3:c.477A>T MANE Select | NP_835454.1:p.Lys159Asn |