Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154869374G>T , CM000663.2:g.154869374G>T | GRCh38 |
| NC_000001.10:g.154841850G>T , CM000663.1:g.154841850G>T | GRCh37 |
| NC_000001.9:g.153108474G>T | NCBI36 |
| NG_016807.2:g.5905C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271915.9:c.591C>A MANE Select | ENSP00000271915.3:p.Asn197Lys | |
| ENST00000271915.8:c.591C>A | ENSP00000271915.3:p.Asn197Lys | |
| ENST00000618040.4:c.591C>A | ENSP00000481848.1:p.Asn197Lys | |
| NM_001204087.1:c.591C>A | NP_001191016.1:p.Asn197Lys | |
| NM_002249.5:c.591C>A | NP_002240.3:p.Asn197Lys | |
| NM_002249.6:c.591C>A MANE Select | NP_002240.3:p.Asn197Lys | |
| NM_001204087.2:c.591C>A | NP_001191016.1:p.Asn197Lys |