Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333691A>G , CM000673.2:g.47333691A>G | GRCh38 |
| NC_000011.9:g.47355242A>G , CM000673.1:g.47355242A>G | GRCh37 |
| NC_000011.8:g.47311818A>G | NCBI36 |
| NG_007667.1:g.24012T>C , LRG_386:g.24012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3056T>C MANE Select | ENSP00000442795.1:p.Val1019Ala | |
| ENST00000256993.8:c.3056T>C | ENSP00000256993.5:p.Val1019Ala | |
| ENST00000399249.6:c.3056T>C | ENSP00000382193.2:p.Val1019Ala | |
| ENST00000545968.5:c.3056T>C | ENSP00000442795.1:p.Val1019Ala | |
| NM_000256.3:c.3056T>C , LRG_386t1:c.3056T>C MANE Select | NP_000247.2:p.Val1019Ala | |
| XM_011520117.1:c.3038T>C | XP_011518419.1:p.Val1013Ala | |
| XM_011520118.1:c.2975T>C | XP_011518420.1:p.Val992Ala |