Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169515513A>G , CM000663.2:g.169515513A>G | GRCh38 |
| NC_000001.10:g.169484751A>G , CM000663.1:g.169484751A>G | GRCh37 |
| NC_000001.9:g.167751375A>G | NCBI36 |
| NG_011806.1:g.76019T>C , LRG_553:g.76019T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6459T>C MANE Select | ENSP00000356771.3:p.Tyr2153= | |
| ENST00000367796.3:c.6474T>C | ENSP00000356770.3:p.Tyr2158= | |
| ENST00000367797.7:c.6459T>C | ENSP00000356771.3:p.Tyr2153= | |
| ENST00000495481.1:n.233T>C | ||
| NM_000130.4:c.6459T>C , LRG_553t1:c.6459T>C | NP_000121.2:p.Tyr2153= | |
| XM_017000660.2:c.6048T>C | XP_016856149.1:p.Tyr2016= | |
| NM_000130.5:c.6459T>C MANE Select | NP_000121.2:p.Tyr2153= |