Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348372G>T , CM000681.2:g.41348372G>T | GRCh38 |
| NC_000019.9:g.41854277G>T , CM000681.1:g.41854277G>T | GRCh37 |
| NC_000019.8:g.46546117G>T | NCBI36 |
| NG_013364.1:g.10555C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.439C>A MANE Select | ENSP00000221930.4:p.Pro147Thr | |
| ENST00000600196.2:c.439C>A | ENSP00000504008.1:p.Pro147Thr | |
| ENST00000677934.1:c.439C>A | ENSP00000504769.1:p.Pro147Thr | |
| ENST00000221930.5:c.439C>A | ENSP00000221930.4:p.Pro147Thr | |
| NM_000660.5:c.439C>A | NP_000651.3:p.Pro147Thr | |
| XM_011527242.1:c.439C>A | XP_011525544.1:p.Pro147Thr | |
| NM_000660.6:c.439C>A | NP_000651.3:p.Pro147Thr | |
| XM_011527242.2:c.439C>A | XP_011525544.1:p.Pro147Thr | |
| NM_000660.7:c.439C>A MANE Select | NP_000651.3:p.Pro147Thr |