Linked Data
ClinVar Variation Id:
427100
ClinVar RCV Id:
RCV000489122
dbSNP Id:
rs1085307957
gnomAD v4:
8-99641950-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99641950G>T , CM000670.2:g.99641950G>T | GRCh38 |
| NC_000008.10:g.100654178G>T , CM000670.1:g.100654178G>T | GRCh37 |
| NC_000008.9:g.100723354G>T | NCBI36 |
| NG_007098.2:g.633685G>T , LRG_351:g.633685G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.5435G>T | ENSP00000507923.1:p.Ser1812Ile | |
| ENST00000682358.1:n.5505G>T | ||
| ENST00000683334.1:c.*1117G>T | ENSP00000507369.1:n.*1117G>T | |
| ENST00000357162.7:c.5360G>T MANE Select | ENSP00000349685.2:p.Ser1787Ile | |
| ENST00000358544.7:c.5435G>T MANE Plus Clinical | ENSP00000351346.2:p.Ser1812Ile | |
| ENST00000357162.6:c.5360G>T | ENSP00000349685.2:p.Ser1787Ile | |
| ENST00000358544.6:c.5435G>T | ENSP00000351346.2:p.Ser1812Ile | |
| NM_017890.4:c.5435G>T , LRG_351t1:c.5435G>T | NP_060360.3:p.Ser1812Ile | |
| NM_152564.4:c.5360G>T , LRG_351t2:c.5360G>T | NP_689777.3:p.Ser1787Ile | |
| XM_005250800.2:c.5435G>T | XP_005250857.1:p.Ser1812Ile | |
| XM_005250801.3:c.5435G>T | XP_005250858.1:p.Ser1812Ile | |
| XM_011516848.1:c.5432G>T | XP_011515150.1:p.Ser1811Ile | |
| XM_011516849.1:c.5357G>T | XP_011515151.1:p.Ser1786Ile | |
| XM_011516850.1:c.5057G>T | XP_011515152.1:p.Ser1686Ile | |
| XM_011516851.1:c.2321G>T | XP_011515153.1:p.Ser774Ile | |
| XM_011516852.1:c.2321G>T | XP_011515154.1:p.Ser774Ile | |
| XM_011516853.1:c.5435G>T | XP_011515155.1:p.Ser1812Ile | |
| XM_011516854.1:c.1214G>T | XP_011515156.1:p.Ser405Ile | |
| XM_005250800.3:c.5435G>T | XP_005250857.1:p.Ser1812Ile | |
| XM_005250801.5:c.5435G>T | XP_005250858.1:p.Ser1812Ile | |
| XM_011516848.2:c.5432G>T | XP_011515150.1:p.Ser1811Ile | |
| XM_011516849.2:c.5357G>T | XP_011515151.1:p.Ser1786Ile | |
| XM_011516850.2:c.5057G>T | XP_011515152.1:p.Ser1686Ile | |
| XM_011516851.2:c.2321G>T | XP_011515153.1:p.Ser774Ile | |
| XM_011516852.2:c.2321G>T | XP_011515154.1:p.Ser774Ile | |
| XM_011516853.2:c.5435G>T | XP_011515155.1:p.Ser1812Ile | |
| XM_011516854.2:c.1214G>T | XP_011515156.1:p.Ser405Ile | |
| XM_017013109.1:c.5240G>T | XP_016868598.1:p.Ser1747Ile | |
| XM_017013111.1:c.2321G>T | XP_016868600.1:p.Ser774Ile | |
| XM_017013112.1:c.992G>T | XP_016868601.1:p.Ser331Ile | |
| XM_024447074.1:c.4220G>T | XP_024302842.1:p.Ser1407Ile | |
| XR_001745482.2:n.5396G>T | ||
| NM_017890.5:c.5435G>T MANE Plus Clinical | NP_060360.3:p.Ser1812Ile | |
| NM_152564.5:c.5360G>T MANE Select | NP_689777.3:p.Ser1787Ile |