Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176883A>C , CM000674.2:g.21176883A>C | GRCh38 |
| NC_000012.11:g.21329817A>C , CM000674.1:g.21329817A>C | GRCh37 |
| NC_000012.10:g.21221084A>C | NCBI36 |
| NG_011745.1:g.50690A>C , LRG_1022:g.50690A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.467A>C MANE Select | NP_006437.3:p.Glu156Ala |
| ENST00000256958.3:c.467A>C MANE Select | ENSP00000256958.2:p.Glu156Ala |
| NM_006446.4:c.467A>C , LRG_1022t1:c.467A>C | NP_006437.3:p.Glu156Ala |
| ENST00000256958.2:c.467A>C | ENSP00000256958.2:p.Glu156Ala |
| ENST00000543498.5:c.533A>C |