Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804041T= , CM000685.2:g.37804041T= | GRCh38 |
| NC_000023.10:g.37663294T= , CM000685.1:g.37663294T= | GRCh37 |
| NC_000023.9:g.37548238T= | NCBI36 |
| NG_009065.1:g.29025T= , LRG_53:g.29025T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*571T= | ENSP00000512461.1:n.*571T= | |
| ENST00000696171.1:c.966T= | ENSP00000512462.1:p.His322= | |
| ENST00000378588.5:c.1062T= MANE Select | ENSP00000367851.4:p.His354= | |
| ENST00000378588.4:c.1062T= | ENSP00000367851.4:p.His354= | |
| ENST00000465127.1:c.171+378041T= | ENSP00000417050.1:n.171+378041T= | |
| ENST00000492288.1:n.487T= | ||
| NM_000397.3:c.1062T= , LRG_53t1:c.1062T= | NP_000388.2:p.His354= | |
| XM_011543890.1:c.756T= | XP_011542192.1:p.His252= | |
| NM_000397.4:c.1062T= MANE Select | NP_000388.2:p.His354= |