Linked Data
dbSNP Id:
rs759365000
ExAC:
9:130630712 G / A
gnomAD v2:
9-130630712-G-A
gnomAD v4:
9-127868433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868433G>A , CM000671.2:g.127868433G>A | GRCh38 |
| NC_000009.11:g.130630712G>A , CM000671.1:g.130630712G>A | GRCh37 |
| NC_000009.10:g.129670533G>A | NCBI36 |
| NG_011792.1:g.14311C>T | |
| NG_011792.2:g.14311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.904C>T | ||
| ENST00000643029.1:c.*2079C>T | ENSP00000496586.1:n.*2079C>T | |
| ENST00000643338.1:c.*1968C>T | ENSP00000495890.1:n.*1968C>T | |
| ENST00000644144.2:c.404C>T MANE Select | ENSP00000494600.1:p.Thr135Ile | |
| ENST00000645007.1:c.*2328C>T | ENSP00000494773.1:n.*2328C>T | |
| ENST00000646171.1:c.*437C>T | ENSP00000495484.1:n.*437C>T | |
| ENST00000223836.10:c.452C>T | ENSP00000223836.10:p.Thr151Ile | |
| ENST00000373156.5:c.404C>T | ENSP00000362249.1:p.Thr135Ile | |
| ENST00000373176.5:c.404C>T | ENSP00000362271.1:p.Thr135Ile | |
| ENST00000413016.5:c.226C>T | ||
| ENST00000550143.5:c.184C>T | ENSP00000449130.1:n.184C>T | |
| NM_000476.2:c.404C>T | NP_000467.1:p.Thr135Ile | |
| XM_005251786.2:c.452C>T | XP_005251843.1:p.Thr151Ile | |
| XM_011518348.1:c.404C>T | XP_011516650.1:p.Thr135Ile | |
| XM_011518349.1:c.224C>T | XP_011516651.1:p.Thr75Ile | |
| NM_001318121.1:c.404C>T | NP_001305050.1:p.Thr135Ile | |
| NM_001318122.1:c.452C>T | NP_001305051.1:p.Thr151Ile | |
| XM_017014428.1:c.404C>T | XP_016869917.1:p.Thr135Ile | |
| XM_024447439.1:c.383C>T | XP_024303207.1:p.Thr128Ile | |
| XM_024447440.1:c.224C>T | XP_024303208.1:p.Thr75Ile | |
| NM_001318122.2:c.452C>T | NP_001305051.1:p.Thr151Ile | |
| NM_000476.3:c.404C>T MANE Select | NP_000467.1:p.Thr135Ile | |
| NR_174625.1:n.3723C>T | ||
| NR_174626.1:n.3566C>T | ||
| NR_174627.1:n.3603C>T | ||
| NR_174628.1:n.2981C>T | ||
| NR_174629.1:n.2926C>T | ||
| NR_174630.1:n.2962C>T | ||
| NR_174631.1:n.2907C>T | ||
| NR_174632.1:n.2996C>T |