Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832713G>T , CM000664.2:g.112832713G>T | GRCh38 |
| NC_000002.11:g.113590290G>T , CM000664.1:g.113590290G>T | GRCh37 |
| NC_000002.10:g.113306761G>T | NCBI36 |
| NG_008851.1:g.9067C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.415C>A MANE Select | ENSP00000263341.2:p.Pro139Thr | |
| ENST00000263341.6:c.415C>A | ENSP00000263341.2:p.Pro139Thr | |
| ENST00000418817.5:c.415C>A | ENSP00000407219.1:p.Pro139Thr | |
| ENST00000487639.1:n.316C>A | ||
| ENST00000491056.5:n.1222C>A | ||
| NM_000576.2:c.415C>A | NP_000567.1:p.Pro139Thr | |
| XM_006712496.1:c.181C>A | XP_006712559.1:p.Pro61Thr | |
| XM_017003988.2:c.322C>A | XP_016859477.1:p.Pro108Thr | |
| NM_000576.3:c.415C>A MANE Select | NP_000567.1:p.Pro139Thr |