Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271239G>T , CM000668.2:g.31271239G>T | GRCh38 |
| NC_000006.11:g.31239016G>T , CM000668.1:g.31239016G>T | GRCh37 |
| NC_000006.10:g.31346995G>T | NCBI36 |
| NG_029422.2:g.5893C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.453C>A MANE Select | NP_002108.4:p.Asn151Lys |
| ENST00000376228.10:c.453C>A MANE Select | ENSP00000365402.5:p.Asn151Lys |
| NM_002117.5:c.453C>A | NP_002108.4:p.Asn151Lys |
| ENST00000376228.9:c.453C>A | ENSP00000365402.5:p.Asn151Lys |
| ENST00000376237.8:c.*40C>A | ENSP00000365412.4:n.*40C>A |
| ENST00000383329.7:c.453C>A | ENSP00000372819.3:p.Asn151Lys |
| ENST00000415537.1:c.451C>A | |
| ENST00000484378.1:n.722C>A | |
| ENST00000487245.5:n.812C>A | |
| ENST00000495835.1:n.642C>A |