Linked Data
ClinVar Variation Id:
444051
ClinVar RCV Id:
RCV000512631
dbSNP Id:
rs1011539285
gnomAD v2:
15-44961589-A-G
gnomAD v4:
15-44669391-A-G
PubMed:
PMID:28965849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44669391A>G , CM000677.2:g.44669391A>G | GRCh38 |
| NC_000015.9:g.44961589A>G , CM000677.1:g.44961589A>G | GRCh37 |
| NC_000015.8:g.42748881A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682850.1:c.953T>C MANE Select | ENSP00000508024.1:p.Ile318Thr | |
| ENST00000434130.6:c.953T>C | ENSP00000416673.1:p.Ile318Thr | |
| ENST00000434130.5:c.953T>C | ENSP00000416673.1:p.Ile318Thr | |
| ENST00000560775.5:c.953T>C | ENSP00000453915.1:p.Ile318Thr | |
| ENST00000560780.1:c.386T>C | ENSP00000453695.1:p.Ile129Thr | |
| NM_001145112.1:c.953T>C | NP_001138584.1:p.Ile318Thr | |
| XM_005254224.2:c.953T>C | XP_005254281.1:p.Ile318Thr | |
| XM_011521336.1:c.953T>C | XP_011519638.1:p.Ile318Thr | |
| XM_011521337.1:c.944T>C | XP_011519639.1:p.Ile315Thr | |
| XM_011521338.1:c.953T>C | XP_011519640.1:p.Ile318Thr | |
| XM_011521339.1:c.953T>C | XP_011519641.1:p.Ile318Thr | |
| XM_011521340.1:c.953T>C | XP_011519642.1:p.Ile318Thr | |
| XM_011521341.1:c.953T>C | XP_011519643.1:p.Ile318Thr | |
| XM_011521342.1:c.731T>C | XP_011519644.1:p.Ile244Thr | |
| XM_011521343.1:c.701T>C | XP_011519645.1:p.Ile234Thr | |
| XM_011521344.1:c.701T>C | XP_011519646.1:p.Ile234Thr | |
| XM_011521345.1:c.692T>C | XP_011519647.1:p.Ile231Thr | |
| XM_011521346.1:c.518T>C | XP_011519648.1:p.Ile173Thr | |
| XM_011521347.1:c.386T>C | XP_011519649.1:p.Ile129Thr | |
| XM_011521348.1:c.386T>C | XP_011519650.1:p.Ile129Thr | |
| NM_001330283.1:c.386T>C | NP_001317212.1:p.Ile129Thr | |
| XM_011521336.2:c.1067T>C | XP_011519638.2:p.Ile356Thr | |
| XM_011521337.2:c.1058T>C | XP_011519639.2:p.Ile353Thr | |
| XM_011521338.3:c.953T>C | XP_011519640.1:p.Ile318Thr | |
| XM_011521339.3:c.953T>C | XP_011519641.1:p.Ile318Thr | |
| XM_011521340.3:c.953T>C | XP_011519642.1:p.Ile318Thr | |
| XM_011521342.2:c.731T>C | XP_011519644.1:p.Ile244Thr | |
| XM_011521343.3:c.701T>C | XP_011519645.1:p.Ile234Thr | |
| XM_011521344.3:c.701T>C | XP_011519646.1:p.Ile234Thr | |
| XM_011521345.3:c.692T>C | XP_011519647.1:p.Ile231Thr | |
| XM_011521346.2:c.632T>C | XP_011519648.2:p.Ile211Thr | |
| XM_017022000.2:c.1067T>C | XP_016877489.1:p.Ile356Thr | |
| XM_017022001.2:c.692T>C | XP_016877490.1:p.Ile231Thr | |
| NM_001145112.2:c.953T>C | NP_001138584.1:p.Ile318Thr | |
| NM_001330283.2:c.386T>C | NP_001317212.1:p.Ile129Thr | |
| NM_001387260.1:c.860T>C | NP_001374189.1:p.Ile287Thr | |
| NM_001387261.1:c.953T>C | NP_001374190.1:p.Ile318Thr | |
| NM_001387262.1:c.953T>C | NP_001374191.1:p.Ile318Thr | |
| NM_001387263.1:c.953T>C MANE Select | NP_001374192.1:p.Ile318Thr | |
| NM_001387264.1:c.860T>C | NP_001374193.1:p.Ile287Thr |