Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21772893A>G , CM000684.2:g.21772893A>G | GRCh38 |
| NC_000022.10:g.22127182A>G , CM000684.1:g.22127182A>G | GRCh37 |
| NC_000022.9:g.20457182A>G | NCBI36 |
| NG_023054.2:g.99788T>C , LRG_786:g.99788T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.946T>C MANE Select | NP_002736.3:p.Tyr316His |
| ENST00000215832.11:c.946T>C MANE Select | ENSP00000215832.7:p.Tyr316His |
| NM_002745.4:c.946T>C , LRG_786t1:c.946T>C | NP_002736.3:p.Tyr316His |
| NM_138957.3:c.946T>C , LRG_786t2:c.946T>C | NP_620407.1:p.Tyr316His |
| ENST00000215832.10:c.946T>C | ENSP00000215832.6:p.Tyr316His |
| ENST00000398822.7:c.946T>C | ENSP00000381803.3:p.Tyr316His |
| ENST00000544786.1:c.814T>C | ENSP00000440842.1:p.Tyr272His |