Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587396A>C , CM000681.2:g.48587396A>C | GRCh38 |
| NC_000019.9:g.49090653A>C , CM000681.1:g.49090653A>C | GRCh37 |
| NC_000019.8:g.53782465A>C | NCBI36 |
| NG_029063.1:g.40225A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.382A>C MANE Select | ENSP00000201586.2:p.Ile128Leu | |
| ENST00000201586.6:c.382A>C | ENSP00000201586.1:p.Ile128Leu | |
| ENST00000323090.4:c.337A>C | ENSP00000312880.3:p.Ile113Leu | |
| NM_004605.2:c.337A>C | NP_004596.2:p.Ile113Leu | |
| NM_177973.1:c.382A>C | NP_814444.1:p.Ile128Leu | |
| NM_177973.2:c.382A>C MANE Select | NP_814444.1:p.Ile128Leu |