Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555304T>G , CM000663.2:g.169555304T>G | GRCh38 |
| NC_000001.10:g.169524542T>G , CM000663.1:g.169524542T>G | GRCh37 |
| NC_000001.9:g.167791166T>G | NCBI36 |
| NG_011806.1:g.36228A>C , LRG_553:g.36228A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.996A>C MANE Select | NP_000121.2:p.Lys332Asn |
| ENST00000367797.9:c.996A>C MANE Select | ENSP00000356771.3:p.Lys332Asn |
| NM_000130.4:c.996A>C , LRG_553t1:c.996A>C | NP_000121.2:p.Lys332Asn |
| ENST00000367796.3:c.996A>C | ENSP00000356770.3:p.Lys332Asn |
| ENST00000367797.7:c.996A>C | ENSP00000356771.3:p.Lys332Asn |
| XM_017000660.2:c.585A>C | XP_016856149.1:p.Lys195Asn |