Linked Data
ClinVar Variation Id:
8431
ClinVar RCV Id:
RCV000008945
RCV000008946
RCV000032119
RCV000194789
RCV000197572
RCV000224441
RCV001027473
RCV001507314
dbSNP Id:
rs104894619
ExAC:
17:15134364 G / A
gnomAD v2:
17-15134364-G-A
gnomAD v3:
17-15231047-G-A
gnomAD v4:
17-15231047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15231047G>A , CM000679.2:g.15231047G>A | GRCh38 |
| NC_000017.10:g.15134364G>A , CM000679.1:g.15134364G>A | GRCh37 |
| NC_000017.9:g.15075089G>A | NCBI36 |
| NG_007949.1:g.39281C>T , LRG_263:g.39281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.353C>T MANE Select | ENSP00000308937.3:p.Thr118Met | |
| ENST00000395936.7:c.*62C>T | ENSP00000379268.1:n.*62C>T | |
| ENST00000395938.7:c.342C>T | ENSP00000379269.3:p.His114= | |
| ENST00000494511.7:c.149C>T | ENSP00000462782.2:p.Thr50Met | |
| ENST00000580584.3:c.149C>T | ENSP00000464468.3:p.Thr50Met | |
| ENST00000612492.5:c.353C>T | ENSP00000484631.1:p.Thr118Met | |
| ENST00000643451.2:c.*208C>T | ENSP00000494628.1:n.*208C>T | |
| ENST00000644020.1:c.*62C>T | ENSP00000496522.1:n.*62C>T | |
| ENST00000646419.2:c.*62C>T | ENSP00000494871.1:n.*62C>T | |
| ENST00000674651.1:c.353C>T | ENSP00000501727.1:p.Thr118Met | |
| ENST00000674673.1:c.353C>T | ENSP00000501804.1:p.Thr118Met | |
| ENST00000674707.1:c.149C>T | ENSP00000502250.1:p.Thr50Met | |
| ENST00000674868.1:c.353C>T | ENSP00000502835.1:p.Thr118Met | |
| ENST00000674871.1:n.369C>T | ||
| ENST00000674947.1:c.342C>T | ENSP00000501580.1:p.His114= | |
| ENST00000675197.1:n.333C>T | ||
| ENST00000675350.1:c.353C>T | ENSP00000501557.1:p.Thr118Met | |
| ENST00000675551.1:c.*22C>T | ENSP00000501945.1:n.*22C>T | |
| ENST00000675808.1:c.353C>T | ENSP00000502310.1:p.Thr118Met | |
| ENST00000675819.1:c.353C>T | ENSP00000502018.1:p.Thr118Met | |
| ENST00000675854.1:c.149C>T | ENSP00000502324.1:p.Thr50Met | |
| ENST00000675950.1:c.353C>T | ENSP00000501546.1:p.Thr118Met | |
| ENST00000676002.1:n.346C>T | ||
| ENST00000676161.1:c.212C>T | ENSP00000501766.1:p.Thr71Met | |
| ENST00000676221.1:c.353C>T | ENSP00000502601.1:p.Thr118Met | |
| ENST00000676329.1:c.455C>T | ENSP00000501698.1:p.Thr152Met | |
| ENST00000312280.7:c.353C>T | ENSP00000308937.3:p.Thr118Met | |
| ENST00000395936.5:c.*62C>T | ENSP00000379268.1:n.*62C>T | |
| ENST00000395938.6:c.353C>T | ENSP00000379269.2:p.Thr118Met | |
| ENST00000494511.5:c.174C>T | ENSP00000462782.1:p.His58= | |
| ENST00000612492.4:c.353C>T | ENSP00000484631.1:p.Thr118Met | |
| NM_000304.3:c.353C>T | NP_000295.1:p.Thr118Met | |
| NM_001281455.1:c.353C>T | NP_001268384.1:p.Thr118Met | |
| NM_001281456.1:c.353C>T | NP_001268385.1:p.Thr118Met | |
| NM_153321.2:c.353C>T | NP_696996.1:p.Thr118Met | |
| NM_153322.2:c.353C>T | NP_696997.1:p.Thr118Met | |
| NR_104017.1:n.479C>T | ||
| NR_104018.1:n.379C>T | ||
| NM_000304.4:c.353C>T MANE Select | NP_000295.1:p.Thr118Met | |
| NM_001281456.2:c.353C>T | NP_001268385.1:p.Thr118Met | |
| NM_153321.3:c.353C>T | NP_696996.1:p.Thr118Met | |
| NM_153322.3:c.353C>T | NP_696997.1:p.Thr118Met | |
| NR_104017.2:n.448C>T | ||
| NR_104018.2:n.348C>T | ||
| NM_001281455.2:c.353C>T | NP_001268384.1:p.Thr118Met |