Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16325451T>C , CM000681.2:g.16325451T>C | GRCh38 |
| NC_000019.9:g.16436262T>C , CM000681.1:g.16436262T>C | GRCh37 |
| NC_000019.8:g.16297262T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248071.6:c.311T>C MANE Select | ENSP00000248071.5:p.Leu104Pro | |
| ENST00000248071.5:c.311T>C | ENSP00000248071.4:p.Leu104Pro | |
| ENST00000592003.1:c.75+453T>C | ENSP00000465035.1:n.75+453T>C | |
| NM_016270.2:c.311T>C | NP_057354.1:p.Leu104Pro | |
| NM_016270.3:c.311T>C | NP_057354.1:p.Leu104Pro | |
| NM_016270.4:c.311T>C MANE Select | NP_057354.1:p.Leu104Pro |