Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154814A>G , CM000681.2:g.55154814A>G | GRCh38 |
| NC_000019.9:g.55666182A>G , CM000681.1:g.55666182A>G | GRCh37 |
| NC_000019.8:g.60357994A>G | NCBI36 |
| NG_007866.2:g.7919T>C , LRG_432:g.7919T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.299T>C MANE Select | ENSP00000341838.5:p.Leu100Pro | |
| ENST00000665070.1:c.299T>C | ENSP00000499482.1:p.Leu100Pro | |
| ENST00000344887.9:c.299T>C | ENSP00000341838.5:p.Leu100Pro | |
| ENST00000585806.5:n.298T>C | ||
| ENST00000586669.5:n.307T>C | ||
| ENST00000587176.5:n.483T>C | ||
| ENST00000587871.1:c.918T>C | ||
| ENST00000588882.1:c.224T>C | ENSP00000466729.1:p.Leu75Pro | |
| ENST00000590463.1:n.471T>C | ||
| NM_000363.4:c.299T>C , LRG_432t1:c.299T>C | NP_000354.4:p.Leu100Pro | |
| NM_000363.5:c.299T>C MANE Select | NP_000354.4:p.Leu100Pro |