Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169514458A>T , CM000663.2:g.169514458A>T | GRCh38 |
| NC_000001.10:g.169483696A>T , CM000663.1:g.169483696A>T | GRCh37 |
| NC_000001.9:g.167750320A>T | NCBI36 |
| NG_011806.1:g.77074T>A , LRG_553:g.77074T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6530T>A MANE Select | ENSP00000356771.3:p.Ile2177Asn | |
| ENST00000367796.3:c.6545T>A | ENSP00000356770.3:p.Ile2182Asn | |
| ENST00000367797.7:c.6530T>A | ENSP00000356771.3:p.Ile2177Asn | |
| ENST00000495481.1:n.304T>A | ||
| NM_000130.4:c.6530T>A , LRG_553t1:c.6530T>A | NP_000121.2:p.Ile2177Asn | |
| XM_017000660.2:c.6119T>A | XP_016856149.1:p.Ile2040Asn | |
| NM_000130.5:c.6530T>A MANE Select | NP_000121.2:p.Ile2177Asn |