Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024003G= , CM000663.2:g.17024003G= | GRCh38 |
| NC_000001.10:g.17350498G= , CM000663.1:g.17350498G= | GRCh37 |
| NC_000001.9:g.17223085G= | NCBI36 |
| NG_012340.1:g.35168C= , LRG_316:g.35168C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.441C= | ENSP00000481376.2:p.Asp147= | |
| ENST00000491274.6:c.570C= | ENSP00000480482.2:p.Asp190= | |
| ENST00000375499.8:c.612C= MANE Select | ENSP00000364649.3:p.Asp204= | |
| ENST00000375499.7:c.612C= | ENSP00000364649.3:p.Asp204= | |
| ENST00000485515.5:n.546C= | ||
| ENST00000491274.5:c.570C= | ENSP00000480482.1:p.Asp190= | |
| NM_003000.2:c.612C= , LRG_316t1:c.612C= | NP_002991.2:p.Asp204= | |
| NM_003000.3:c.612C= MANE Select | NP_002991.2:p.Asp204= |