Linked Data
ClinVar Variation Id:
1311628
ClinVar RCV Id:
RCV001752611
dbSNP Id:
rs1793227770
gnomAD v4:
6-157189762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189762C>T , CM000668.2:g.157189762C>T | GRCh38 |
| NC_000006.11:g.157510896C>T , CM000668.1:g.157510896C>T | GRCh37 |
| NC_000006.10:g.157552588C>T | NCBI36 |
| NG_032093.1:g.416833C>T | |
| NG_032093.2:g.416833C>T | |
| NG_066624.1:g.418737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3881C>T | ENSP00000055163.8:p.Thr1294Ile | |
| ENST00000414678.8:c.3950C>T | ENSP00000412835.3:p.Thr1317Ile | |
| ENST00000637015.2:c.4169C>T | ENSP00000489729.2:p.Thr1390Ile | |
| ENST00000346085.10:c.3920C>T | ENSP00000344546.5:p.Thr1307Ile | |
| ENST00000350026.10:c.3632C>T | ENSP00000055163.7:p.Thr1211Ile | |
| ENST00000414678.7:c.2198C>T | ENSP00000412835.2:p.Thr733Ile | |
| ENST00000635849.1:c.1361C>T | ENSP00000490948.1:p.Thr454Ile | |
| ENST00000635957.1:c.995C>T | ENSP00000490385.1:p.Thr332Ile | |
| ENST00000636930.2:c.4040C>T MANE Select | ENSP00000490491.2:p.Thr1347Ile | |
| ENST00000636940.1:n.2037C>T | ||
| ENST00000637015.1:c.1408C>T | ||
| ENST00000637568.1:c.1322C>T | ||
| ENST00000637741.1:n.706C>T | ||
| ENST00000637810.1:c.1382C>T | ENSP00000489636.1:p.Thr461Ile | |
| ENST00000637904.1:c.1541C>T | ENSP00000490550.1:p.Thr514Ile | |
| ENST00000647938.1:c.3671C>T | ENSP00000498155.1:p.Thr1224Ile | |
| ENST00000346085.9:c.3671C>T | ENSP00000344546.4:p.Thr1224Ile | |
| ENST00000350026.9:c.3632C>T | ENSP00000055163.7:p.Thr1211Ile | |
| ENST00000414678.6:c.2198C>T | ENSP00000412835.2:p.Thr733Ile | |
| NM_017519.2:c.3632C>T | NP_059989.2:p.Thr1211Ile | |
| NM_020732.3:c.3671C>T | NP_065783.3:p.Thr1224Ile | |
| XM_005267069.3:c.3791C>T | XP_005267126.2:p.Thr1264Ile | |
| XM_011535984.1:c.2870C>T | XP_011534286.1:p.Thr957Ile | |
| XM_011535985.1:c.2690C>T | XP_011534287.1:p.Thr897Ile | |
| XM_011535986.1:c.2450C>T | XP_011534288.1:p.Thr817Ile | |
| XM_011535987.1:c.2069C>T | XP_011534289.1:p.Thr690Ile | |
| XM_011535988.1:c.932C>T | XP_011534290.1:p.Thr311Ile | |
| NM_001346813.1:c.3791C>T | NP_001333742.1:p.Thr1264Ile | |
| NM_001363725.1:c.1541C>T | NP_001350654.1:p.Thr514Ile | |
| XM_011535984.2:c.4001C>T | XP_011534286.2:p.Thr1334Ile | |
| XM_011535988.3:c.932C>T | XP_011534290.1:p.Thr311Ile | |
| XM_017011103.2:c.3902C>T | XP_016866592.1:p.Thr1301Ile | |
| XM_017011104.1:c.3872C>T | XP_016866593.1:p.Thr1291Ile | |
| XM_017011105.2:c.3842C>T | XP_016866594.1:p.Thr1281Ile | |
| XM_017011106.2:c.3713C>T | XP_016866595.1:p.Thr1238Ile | |
| XM_017011107.2:c.3692C>T | XP_016866596.1:p.Thr1231Ile | |
| XR_002956289.1:n.4084C>T | ||
| NM_001363725.2:c.1541C>T | NP_001350654.1:p.Thr514Ile | |
| NM_001371656.1:c.3920C>T | NP_001358585.1:p.Thr1307Ile | |
| NM_001374820.1:c.3920C>T | NP_001361749.1:p.Thr1307Ile | |
| NM_001374828.1:c.4040C>T MANE Select | NP_001361757.1:p.Thr1347Ile | |
| NM_017519.3:c.3881C>T | NP_059989.3:p.Thr1294Ile |