Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882193T>C , CM000664.2:g.218882193T>C | GRCh38 |
| NC_000002.11:g.219746915T>C , CM000664.1:g.219746915T>C | GRCh37 |
| NC_000002.10:g.219455159T>C | NCBI36 |
| NG_012179.1:g.6661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.146T>C MANE Select | ENSP00000258411.3:p.Leu49Pro | |
| ENST00000258411.7:c.146T>C | ENSP00000258411.3:p.Leu49Pro | |
| ENST00000458582.1:c.33T>C | ||
| NM_025216.2:c.146T>C | NP_079492.2:p.Leu49Pro | |
| XM_011511928.1:c.95T>C | XP_011510230.1:p.Leu32Pro | |
| XM_011511929.1:c.50T>C | XP_011510231.1:p.Leu17Pro | |
| XM_011511930.1:c.146T>C | XP_011510232.1:p.Leu49Pro | |
| XM_011511929.2:c.50T>C | XP_011510231.1:p.Leu17Pro | |
| NM_025216.3:c.146T>C MANE Select | NP_079492.2:p.Leu49Pro |