Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41610549T>G , CM000679.2:g.41610549T>G | GRCh38 |
| NC_000017.10:g.39766801T>G , CM000679.1:g.39766801T>G | GRCh37 |
| NC_000017.9:g.37020327T>G | NCBI36 |
| NG_008301.1:g.7279A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005557.4:c.1062A>C MANE Select | NP_005548.2:p.Lys354Asn |
| ENST00000301653.9:c.1062A>C MANE Select | ENSP00000301653.3:p.Lys354Asn |
| NM_005557.3:c.1062A>C | NP_005548.2:p.Lys354Asn |
| ENST00000301653.8:c.1062A>C | ENSP00000301653.3:p.Lys354Asn |
| ENST00000593067.1:c.348A>C | ENSP00000467124.1:p.Lys116Asn |