Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47290971A>C , CM000679.2:g.47290971A>C | GRCh38 |
| NC_000017.10:g.45368337A>C , CM000679.1:g.45368337A>C | GRCh37 |
| NC_000017.9:g.42723336A>C | NCBI36 |
| NG_008332.2:g.42130A>C , LRG_481:g.42130A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1143A>C | ENSP00000513002.1:p.Val381= | |
| ENST00000559488.7:c.1143A>C MANE Select | ENSP00000452786.2:p.Val381= | |
| ENST00000559488.5:c.1143A>C | ENSP00000452786.1:p.Val381= | |
| ENST00000560629.1:c.1108A>C | ||
| ENST00000571680.1:c.1143A>C | ENSP00000461626.1:p.Val381= | |
| NM_000212.2:c.1143A>C , LRG_481t1:c.1143A>C | NP_000203.2:p.Val381= | |
| NM_000212.3:c.1143A>C MANE Select | NP_000203.2:p.Val381= |