Linked Data
ClinVar Variation Id:
411867
dbSNP Id:
rs972166211
gnomAD v3:
2-38986063-G-T
gnomAD v4:
2-38986063-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986063G>T , CM000664.2:g.38986063G>T | GRCh38 |
| NC_000002.11:g.39213204G>T , CM000664.1:g.39213204G>T | GRCh37 |
| NC_000002.10:g.39066708G>T | NCBI36 |
| NG_007530.1:g.139401C>A , LRG_754:g.139401C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2530C>A | ENSP00000509424.1:p.Pro844Thr | |
| ENST00000686849.1:n.554C>A | ||
| ENST00000690876.1:c.*1069C>A | ENSP00000508955.1:n.*1069C>A | |
| ENST00000692089.1:c.3399+1410C>A | ENSP00000508626.1:n.3399+1410C>A | |
| ENST00000692227.1:c.1162-700C>A | ENSP00000509138.1:n.1162-700C>A | |
| ENST00000402219.8:c.3763C>A MANE Select | ENSP00000384675.2:p.Pro1255Thr | |
| ENST00000395038.6:c.3718C>A | ENSP00000378479.2:p.Pro1240Thr | |
| ENST00000402219.6:c.3763C>A | ENSP00000384675.2:p.Pro1255Thr | |
| ENST00000426016.5:c.3763C>A | ENSP00000387784.1:p.Pro1255Thr | |
| ENST00000469581.1:n.506C>A | ||
| NM_005633.3:c.3763C>A , LRG_754t1:c.3763C>A | NP_005624.2:p.Pro1255Thr | |
| XM_005264515.3:c.3718C>A | XP_005264572.1:p.Pro1240Thr | |
| XM_011533060.1:c.3856C>A | XP_011531362.1:p.Pro1286Thr | |
| XM_011533061.1:c.3811C>A | XP_011531363.1:p.Pro1271Thr | |
| XM_011533062.1:c.3742C>A | XP_011531364.1:p.Pro1248Thr | |
| XM_011533063.1:c.3739C>A | XP_011531365.1:p.Pro1247Thr | |
| XM_011533064.1:c.3592C>A | XP_011531366.1:p.Pro1198Thr | |
| XM_011533065.1:c.3604-700C>A | XP_011531367.1:n.3604-700C>A | |
| XM_011533066.1:c.2698C>A | XP_011531368.1:p.Pro900Thr | |
| XM_005264515.4:c.3718C>A | XP_005264572.1:p.Pro1240Thr | |
| XM_011533062.2:c.3742C>A | XP_011531364.1:p.Pro1248Thr | |
| XM_011533064.2:c.3592C>A | XP_011531366.1:p.Pro1198Thr | |
| NM_001382394.1:c.3742C>A | NP_001369323.1:p.Pro1248Thr | |
| NM_001382395.1:c.3718C>A | NP_001369324.1:p.Pro1240Thr | |
| NM_005633.4:c.3763C>A MANE Select | NP_005624.2:p.Pro1255Thr |