Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110197A>G , CM000670.2:g.118110197A>G | GRCh38 |
| NC_000008.10:g.119122436A>G , CM000670.1:g.119122436A>G | GRCh37 |
| NC_000008.9:g.119191617A>G | NCBI36 |
| NG_007455.2:g.6623T>C , LRG_493:g.6623T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.850T>C MANE Select | NP_000118.2:p.Tyr284His |
| ENST00000378204.7:c.850T>C MANE Select | ENSP00000367446.3:p.Tyr284His |
| NM_000127.2:c.850T>C , LRG_493t1:c.850T>C | NP_000118.2:p.Tyr284His |
| ENST00000378204.6:c.850T>C | ENSP00000367446.2:p.Tyr284His |
| ENST00000436216.1:c.218T>C | |
| ENST00000436216.2:c.218T>C | |
| ENST00000437196.1:c.73+777T>C | ENSP00000407299.1:n.73+777T>C |