Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807318C= , CM000670.2:g.117807318C= | GRCh38 |
| NC_000008.10:g.118819557C= , CM000670.1:g.118819557C= | GRCh37 |
| NC_000008.9:g.118888738C= | NCBI36 |
| NG_007455.2:g.309502G= , LRG_493:g.309502G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1249G= | ||
| ENST00000378204.7:c.1782G= MANE Select | ENSP00000367446.3:p.Ala594= | |
| ENST00000378204.6:c.1782G= | ENSP00000367446.2:p.Ala594= | |
| ENST00000437196.1:c.*673G= | ENSP00000407299.1:n.*673G= | |
| NM_000127.2:c.1782G= , LRG_493t1:c.1782G= | NP_000118.2:p.Ala594= | |
| NM_000127.3:c.1782G= MANE Select | NP_000118.2:p.Ala594= |