Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154869461G>T , CM000663.2:g.154869461G>T | GRCh38 |
| NC_000001.10:g.154841937G>T , CM000663.1:g.154841937G>T | GRCh37 |
| NC_000001.9:g.153108561G>T | NCBI36 |
| NG_016807.2:g.5818C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002249.6:c.504C>A MANE Select | NP_002240.3:p.Asn168Lys |
| ENST00000271915.9:c.504C>A MANE Select | ENSP00000271915.3:p.Asn168Lys |
| NM_001204087.1:c.504C>A | NP_001191016.1:p.Asn168Lys |
| NM_001204087.2:c.504C>A | NP_001191016.1:p.Asn168Lys |
| NM_002249.5:c.504C>A | NP_002240.3:p.Asn168Lys |
| ENST00000271915.8:c.504C>A | ENSP00000271915.3:p.Asn168Lys |
| ENST00000618040.4:c.504C>A | ENSP00000481848.1:p.Asn168Lys |