Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110209T>C , CM000670.2:g.118110209T>C | GRCh38 |
| NC_000008.10:g.119122448T>C , CM000670.1:g.119122448T>C | GRCh37 |
| NC_000008.9:g.119191629T>C | NCBI36 |
| NG_007455.2:g.6611A>G , LRG_493:g.6611A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.838A>G MANE Select | ENSP00000367446.3:p.Arg280Gly | |
| ENST00000436216.2:c.206A>G | ||
| ENST00000378204.6:c.838A>G | ENSP00000367446.2:p.Arg280Gly | |
| ENST00000436216.1:c.206A>G | ||
| ENST00000437196.1:c.73+765A>G | ENSP00000407299.1:n.73+765A>G | |
| NM_000127.2:c.838A>G , LRG_493t1:c.838A>G | NP_000118.2:p.Arg280Gly | |
| NM_000127.3:c.838A>G MANE Select | NP_000118.2:p.Arg280Gly |