Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110173C= , CM000670.2:g.118110173C= | GRCh38 |
| NC_000008.10:g.119122412C= , CM000670.1:g.119122412C= | GRCh37 |
| NC_000008.9:g.119191593C= | NCBI36 |
| NG_007455.2:g.6647G= , LRG_493:g.6647G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.874G= MANE Select | ENSP00000367446.3:p.Val292= | |
| ENST00000436216.2:c.242G= | ||
| ENST00000378204.6:c.874G= | ENSP00000367446.2:p.Val292= | |
| ENST00000436216.1:c.242G= | ||
| ENST00000437196.1:c.73+801G= | ENSP00000407299.1:n.73+801G= | |
| NM_000127.2:c.874G= , LRG_493t1:c.874G= | NP_000118.2:p.Val292= | |
| NM_000127.3:c.874G= MANE Select | NP_000118.2:p.Val292= |