Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48349002A= , CM000675.2:g.48349002A= | GRCh38 |
| NC_000013.10:g.48923138A= , CM000675.1:g.48923138A= | GRCh37 |
| NC_000013.9:g.47821139A= | NCBI36 |
| NG_009009.1:g.50256A= , LRG_517:g.50256A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.586A= MANE Select | ENSP00000267163.4:p.Ile196= | |
| ENST00000650461.1:c.586A= | ENSP00000497193.1:p.Ile196= | |
| ENST00000267163.4:c.586A= | ENSP00000267163.4:p.Ile196= | |
| ENST00000467505.5:c.138-11015A= | ENSP00000434702.1:n.138-11015A= | |
| ENST00000525036.1:n.748A= | ||
| NM_000321.2:c.586A= , LRG_517t1:c.586A= | NP_000312.2:p.Ile196= | |
| XM_011535171.1:c.325A= | XP_011533473.1:p.Ile109= | |
| XM_011535171.2:c.325A= | XP_011533473.1:p.Ile109= | |
| NM_000321.3:c.586A= MANE Select | NP_000312.2:p.Ile196= |