Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564736A>G , CM000684.2:g.36564736A>G | GRCh38 |
| NC_000022.10:g.36960783A>G , CM000684.1:g.36960783A>G | GRCh37 |
| NC_000022.9:g.35290729A>G | NCBI36 |
| NG_031861.1:g.142908T>C | |
| NG_031861.2:g.143123T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.587T>C MANE Select | ENSP00000300105.6:p.Leu196Pro | |
| ENST00000300105.6:c.587T>C | ENSP00000300105.6:p.Leu196Pro | |
| NM_006078.3:c.587T>C | NP_006069.1:p.Leu196Pro | |
| NM_006078.4:c.587T>C | NP_006069.1:p.Leu196Pro | |
| XM_017028531.2:c.329T>C | XP_016884020.1:p.Leu110Pro | |
| NM_001379051.1:c.518T>C | NP_001365980.1:p.Leu173Pro | |
| NM_006078.5:c.587T>C MANE Select | NP_006069.1:p.Leu196Pro | |
| NR_166440.1:n.1953T>C |