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