Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37780085A>C , CM000685.2:g.37780085A>C | GRCh38 |
| NC_000023.10:g.37639338A>C , CM000685.1:g.37639338A>C | GRCh37 |
| NC_000023.9:g.37524282A>C | NCBI36 |
| NG_009065.1:g.5069A>C , LRG_53:g.5069A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.8A>C MANE Select | NP_000388.2:p.Asn3Thr |
| ENST00000378588.5:c.8A>C MANE Select | ENSP00000367851.4:p.Asn3Thr |
| NM_000397.3:c.8A>C , LRG_53t1:c.8A>C | NP_000388.2:p.Asn3Thr |
| ENST00000378588.4:c.8A>C | ENSP00000367851.4:p.Asn3Thr |
| ENST00000465127.1:c.171+354085A>C | ENSP00000417050.1:n.171+354085A>C |
| ENST00000696170.1:c.8A>C | ENSP00000512461.1:p.Asn3Thr |
| ENST00000696171.1:c.8A>C | ENSP00000512462.1:p.Asn3Thr |
| ENST00000696172.1:c.8A>C | ENSP00000512463.1:p.Asn3Thr |
| ENST00000696173.1:n.16A>C |