Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978034G>C , CM000667.2:g.149978034G>C | GRCh38 |
| NC_000005.9:g.149357597G>C , CM000667.1:g.149357597G>C | GRCh37 |
| NC_000005.8:g.149337790G>C | NCBI36 |
| NG_007147.2:g.19152G>C , LRG_684:g.19152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.614G>C | ||
| ENST00000286298.5:c.382G>C MANE Select | ENSP00000286298.4:p.Ala128Pro | |
| ENST00000286298.4:c.382G>C | ENSP00000286298.4:p.Ala128Pro | |
| ENST00000503336.1:c.55G>C | ENSP00000426053.1:p.Ala19Pro | |
| NM_000112.3:c.382G>C , LRG_684t1:c.382G>C | NP_000103.2:p.Ala128Pro | |
| XM_017009191.2:c.382G>C | XP_016864680.1:p.Ala128Pro | |
| NM_000112.4:c.382G>C MANE Select | NP_000103.2:p.Ala128Pro |