Linked Data
ClinVar Variation Id:
12588
dbSNP Id:
rs104894364
gnomAD v4:
12-25227351-G-A
PubMed:
PMID:16474405
PMID:16921267
PMID:17704260
PMID:18509354
PMID:19396835
PMID:20112233
PMID:20949621
PMID:23321623
ERepo:
CA256480/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227351G>A , CM000674.2:g.25227351G>A | GRCh38 |
| NC_000012.11:g.25380285G>A , CM000674.1:g.25380285G>A | GRCh37 |
| NC_000012.10:g.25271552G>A | NCBI36 |
| NG_007524.1:g.28570C>T | |
| NG_007524.2:g.28653C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.112-17440C>T | ENSP00000452512.1:n.112-17440C>T | |
| ENST00000685328.1:c.173C>T | ENSP00000508921.1:p.Thr58Ile | |
| ENST00000686877.1:c.*144C>T | ENSP00000510431.1:n.*144C>T | |
| ENST00000687356.1:c.112-1578C>T | ENSP00000510511.1:n.112-1578C>T | |
| ENST00000688228.1:n.647C>T | ||
| ENST00000688940.1:c.173C>T | ENSP00000509238.1:p.Thr58Ile | |
| ENST00000690804.1:c.*134C>T | ENSP00000508568.1:n.*134C>T | |
| ENST00000692768.1:c.-26C>T | ENSP00000510254.1:n.-26C>T | |
| ENST00000693229.1:c.112-14C>T | ENSP00000509223.1:n.112-14C>T | |
| ENST00000256078.10:c.173C>T MANE Plus Clinical | ENSP00000256078.5:p.Thr58Ile | |
| ENST00000311936.8:c.173C>T MANE Select | ENSP00000308495.3:p.Thr58Ile | |
| ENST00000256078.8:c.173C>T | ENSP00000256078.4:p.Thr58Ile | |
| ENST00000311936.7:c.173C>T | ENSP00000308495.3:p.Thr58Ile | |
| ENST00000557334.5:c.112-17440C>T | ENSP00000452512.1:n.112-17440C>T | |
| NM_004985.4:c.173C>T | NP_004976.2:p.Thr58Ile | |
| NM_033360.3:c.173C>T | NP_203524.1:p.Thr58Ile | |
| XM_006719069.2:c.173C>T | XP_006719132.1:p.Thr58Ile | |
| XM_011520653.1:c.173C>T | XP_011518955.1:p.Thr58Ile | |
| XM_006719069.4:c.173C>T | XP_006719132.1:p.Thr58Ile | |
| XM_011520653.3:c.173C>T | XP_011518955.1:p.Thr58Ile | |
| NM_001369786.1:c.173C>T | NP_001356715.1:p.Thr58Ile | |
| NM_001369787.1:c.173C>T | NP_001356716.1:p.Thr58Ile | |
| NM_004985.5:c.173C>T MANE Select | NP_004976.2:p.Thr58Ile | |
| NM_033360.4:c.173C>T MANE Plus Clinical | NP_203524.1:p.Thr58Ile |