Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37809601A>C , CM000685.2:g.37809601A>C | GRCh38 |
| NC_000023.10:g.37668854A>C , CM000685.1:g.37668854A>C | GRCh37 |
| NC_000023.9:g.37553798A>C | NCBI36 |
| NG_009065.1:g.34585A>C , LRG_53:g.34585A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.1496A>C MANE Select | NP_000388.2:p.Lys499Thr |
| ENST00000378588.5:c.1496A>C MANE Select | ENSP00000367851.4:p.Lys499Thr |
| NM_000397.3:c.1496A>C , LRG_53t1:c.1496A>C | NP_000388.2:p.Lys499Thr |
| ENST00000378588.4:c.1496A>C | ENSP00000367851.4:p.Lys499Thr |
| ENST00000465127.1:c.171+383601A>C | ENSP00000417050.1:n.171+383601A>C |
| ENST00000696170.1:c.*1005A>C | ENSP00000512461.1:n.*1005A>C |
| ENST00000696171.1:c.1400A>C | ENSP00000512462.1:p.Lys467Thr |
| XM_011543890.1:c.1190A>C | XP_011542192.1:p.Lys397Thr |