Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124346G>T , CM000664.2:g.71124346G>T | GRCh38 |
| NC_000002.11:g.71351476G>T , CM000664.1:g.71351476G>T | GRCh37 |
| NC_000002.10:g.71204984G>T | NCBI36 |
| NG_008977.1:g.10919C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.238C>A MANE Select | ENSP00000244217.5:p.Pro80Thr | |
| ENST00000244217.5:c.238C>A | ENSP00000244217.5:p.Pro80Thr | |
| ENST00000413592.5:c.84+22C>A | ENSP00000391140.1:n.84+22C>A | |
| ENST00000486135.1:c.-48C>A | ENSP00000441569.1:n.-48C>A | |
| ENST00000494660.6:c.-48C>A | ENSP00000437361.1:n.-48C>A | |
| NM_032601.3:c.238C>A | NP_115990.3:p.Pro80Thr | |
| XM_005264613.2:c.216+22C>A | XP_005264670.1:n.216+22C>A | |
| XR_939729.1:n.307C>A | ||
| XR_939729.2:n.307C>A | ||
| NM_032601.4:c.238C>A MANE Select | NP_115990.3:p.Pro80Thr |