Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563616A>G , CM000664.2:g.189563616A>G | GRCh38 |
| NC_000002.11:g.190428342A>G , CM000664.1:g.190428342A>G | GRCh37 |
| NC_000002.10:g.190136587A>G | NCBI36 |
| NG_009027.1:g.22196T>C , LRG_837:g.22196T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1370T>C MANE Select | ENSP00000261024.3:p.Leu457Pro | |
| ENST00000261024.6:c.1370T>C | ENSP00000261024.2:p.Leu457Pro | |
| NM_014585.5:c.1370T>C , LRG_837t1:c.1370T>C | NP_055400.1:p.Leu457Pro | |
| XM_005246505.1:c.1250T>C | XP_005246562.1:p.Leu417Pro | |
| XM_005246505.2:c.1250T>C | XP_005246562.1:p.Leu417Pro | |
| XM_017003938.2:c.1250T>C | XP_016859427.1:p.Leu417Pro | |
| NM_014585.6:c.1370T>C MANE Select | NP_055400.1:p.Leu457Pro |