Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169759A>C , CM000675.2:g.110169759A>C | GRCh38 |
| NC_000013.10:g.110822106A>C , CM000675.1:g.110822106A>C | GRCh37 |
| NC_000013.9:g.109620107A>C | NCBI36 |
| NG_011544.2:g.142391T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3746T>G MANE Select | ENSP00000364979.4:p.Leu1249Arg | |
| ENST00000375820.8:c.3746T>G | ENSP00000364979.4:p.Leu1249Arg | |
| NM_001845.5:c.3746T>G | NP_001836.3:p.Leu1249Arg | |
| XM_011521048.1:c.3554T>G | XP_011519350.1:p.Leu1185Arg | |
| XM_011521048.2:c.3554T>G | XP_011519350.1:p.Leu1185Arg | |
| NM_001845.6:c.3746T>G MANE Select | NP_001836.3:p.Leu1249Arg |