Linked Data
dbSNP Id:
rs2229304
ExAC:
17:46629593 G / T
gnomAD v2:
17-46629593-G-T
gnomAD v3:
17-48552231-G-T
gnomAD v4:
17-48552231-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48552231G>T , CM000679.2:g.48552231G>T | GRCh38 |
| NC_000017.10:g.46629593G>T , CM000679.1:g.46629593G>T | GRCh37 |
| NC_000017.9:g.43984592G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498678.6:c.244C>A MANE Select | ENSP00000420595.1:p.Pro82Thr | |
| ENST00000311626.8:c.244C>A | ENSP00000308252.4:p.Pro82Thr | |
| ENST00000460160.5:c.-12-141C>A | ENSP00000418035.1:n.-12-141C>A | |
| ENST00000470495.1:c.244C>A | ENSP00000417207.1:p.Pro82Thr | |
| ENST00000471459.1:c.25C>A | ENSP00000417400.1:p.Pro9Thr | |
| ENST00000472863.5:c.25C>A | ENSP00000419676.1:p.Pro9Thr | |
| ENST00000476342.1:c.244C>A | ENSP00000418892.1:p.Pro82Thr | |
| ENST00000489475.5:c.25C>A | ENSP00000418729.1:p.Pro9Thr | |
| ENST00000490677.1:c.50-1053C>A | ENSP00000449977.1:n.50-1053C>A | |
| ENST00000498678.5:c.244C>A | ENSP00000420595.1:p.Pro82Thr | |
| NM_002146.4:c.244C>A | NP_002137.4:p.Pro82Thr | |
| XM_005257277.3:c.244C>A | XP_005257334.1:p.Pro82Thr | |
| XM_005257280.3:c.25C>A | XP_005257337.1:p.Pro9Thr | |
| XM_005257282.3:c.-12-141C>A | XP_005257339.1:n.-12-141C>A | |
| XM_006721854.2:c.244C>A | XP_006721917.1:p.Pro82Thr | |
| XM_006721855.2:c.244C>A | XP_006721918.1:p.Pro82Thr | |
| XM_011524707.1:c.685C>A | XP_011523009.1:p.Pro229Thr | |
| XM_011524708.1:c.556-141C>A | XP_011523010.1:n.556-141C>A | |
| XM_011524709.1:c.556-141C>A | XP_011523011.1:n.556-141C>A | |
| XM_011524710.1:c.244C>A | XP_011523012.1:p.Pro82Thr | |
| XM_011524711.1:c.244C>A | XP_011523013.1:p.Pro82Thr | |
| XM_011524712.1:c.244C>A | XP_011523014.1:p.Pro82Thr | |
| XM_011524713.1:c.244C>A | XP_011523015.1:p.Pro82Thr | |
| XM_011524714.1:c.244C>A | XP_011523016.1:p.Pro82Thr | |
| XM_011524715.1:c.244C>A | XP_011523017.1:p.Pro82Thr | |
| XM_011524716.1:c.244C>A | XP_011523018.1:p.Pro82Thr | |
| XM_011524717.1:c.244C>A | XP_011523019.1:p.Pro82Thr | |
| XM_011524718.1:c.244C>A | XP_011523020.1:p.Pro82Thr | |
| XM_011524719.1:c.244C>A | XP_011523021.1:p.Pro82Thr | |
| XM_011524720.1:c.244C>A | XP_011523022.1:p.Pro82Thr | |
| XM_011524721.1:c.244C>A | XP_011523023.1:p.Pro82Thr | |
| XM_011524722.1:c.25C>A | XP_011523024.1:p.Pro9Thr | |
| XM_011524723.1:c.-12-141C>A | XP_011523025.1:n.-12-141C>A | |
| XM_011524724.1:c.-12-141C>A | XP_011523026.1:n.-12-141C>A | |
| XM_011524725.1:c.620-141C>A | XP_011523027.1:n.620-141C>A | |
| XM_011524726.1:c.25C>A | XP_011523028.1:p.Pro9Thr | |
| NM_001330322.1:c.25C>A | NP_001317251.1:p.Pro9Thr | |
| NM_001330323.1:c.-12-141C>A | NP_001317252.1:n.-12-141C>A | |
| XM_006721854.3:c.244C>A | XP_006721917.1:p.Pro82Thr | |
| XM_011524708.3:c.-12-141C>A | XP_011523010.2:n.-12-141C>A | |
| XM_011524710.2:c.244C>A | XP_011523012.1:p.Pro82Thr | |
| XM_011524719.2:c.244C>A | XP_011523021.1:p.Pro82Thr | |
| XM_011524720.3:c.244C>A | XP_011523022.1:p.Pro82Thr | |
| XM_011524721.3:c.244C>A | XP_011523023.1:p.Pro82Thr | |
| XM_011524726.2:c.25C>A | XP_011523028.1:p.Pro9Thr | |
| XM_017024560.1:c.685C>A | XP_016880049.1:p.Pro229Thr | |
| XM_024450737.1:c.244C>A | XP_024306505.1:p.Pro82Thr | |
| NM_001330322.2:c.25C>A | NP_001317251.1:p.Pro9Thr | |
| NM_001384747.1:c.244C>A | NP_001371676.1:p.Pro82Thr | |
| NM_001384749.1:c.244C>A MANE Select | NP_001371678.1:p.Pro82Thr | |
| NM_001384750.1:c.25C>A | NP_001371679.1:p.Pro9Thr |