Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476709G>A , CM000675.2:g.48476709G>A | GRCh38 |
| NC_000013.10:g.49050845G>A , CM000675.1:g.49050845G>A | GRCh37 |
| NC_000013.9:g.47948846G>A | NCBI36 |
| NG_009009.1:g.177963G>A , LRG_517:g.177963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2529G>A MANE Select | ENSP00000267163.4:p.Glu843= | |
| ENST00000643064.1:c.194+95266G>A | ||
| ENST00000650461.1:c.2529G>A | ENSP00000497193.1:p.Glu843= | |
| ENST00000267163.4:c.2529G>A | ENSP00000267163.4:p.Glu843= | |
| ENST00000484879.1:n.263G>A | ||
| ENST00000531171.5:n.132G>A | ||
| NM_000321.2:c.2529G>A , LRG_517t1:c.2529G>A | NP_000312.2:p.Glu843= | |
| XM_011535171.1:c.2268G>A | XP_011533473.1:p.Glu756= | |
| XM_011535171.2:c.2268G>A | XP_011533473.1:p.Glu756= | |
| NM_000321.3:c.2529G>A MANE Select | NP_000312.2:p.Glu843= |