Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80741466A>C , CM000667.2:g.80741466A>C | GRCh38 |
| NC_000005.9:g.80037285A>C , CM000667.1:g.80037285A>C | GRCh37 |
| NC_000005.8:g.80073041A>C | NCBI36 |
| NG_016607.1:g.91992A>C | |
| NG_016607.2:g.91992A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.1571A>C MANE Select | NP_002430.3:p.Asn524Thr |
| ENST00000265081.7:c.1571A>C MANE Select | ENSP00000265081.6:p.Asn524Thr |
| NM_002439.4:c.1571A>C | NP_002430.3:p.Asn524Thr |
| ENST00000265081.6:c.1571A>C | ENSP00000265081.6:p.Asn524Thr |
| ENST00000512258.1:n.420A>C | |
| ENST00000658259.1:c.1403A>C | ENSP00000499617.1:p.Asn468Thr |
| ENST00000667069.1:c.1568+12501A>C | ENSP00000499502.1:n.1568+12501A>C |
| ENST00000670357.1:c.1571A>C | ENSP00000499791.1:p.Asn524Thr |