Linked Data
ClinVar Variation Id:
2446259
ClinVar RCV Id:
RCV003156613
dbSNP Id:
rs766639614
gnomAD v4:
6-157201399-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201399T>C , CM000668.2:g.157201399T>C | GRCh38 |
| NC_000006.11:g.157522533T>C , CM000668.1:g.157522533T>C | GRCh37 |
| NC_000006.10:g.157564225T>C | NCBI36 |
| NG_032093.1:g.428470T>C | |
| NG_032093.2:g.428470T>C | |
| NG_066624.1:g.430374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.5015T>C | ENSP00000055163.8:p.Ile1672Thr | |
| ENST00000414678.8:c.5084T>C | ENSP00000412835.3:p.Ile1695Thr | |
| ENST00000637015.2:c.5303T>C | ENSP00000489729.2:p.Ile1768Thr | |
| ENST00000346085.10:c.5054T>C | ENSP00000344546.5:p.Ile1685Thr | |
| ENST00000350026.10:c.4766T>C | ENSP00000055163.7:p.Ile1589Thr | |
| ENST00000414678.7:c.3332T>C | ENSP00000412835.2:p.Ile1111Thr | |
| ENST00000635849.1:c.2495T>C | ENSP00000490948.1:p.Ile832Thr | |
| ENST00000635957.1:c.2126T>C | ENSP00000490385.1:p.Ile709Thr | |
| ENST00000636227.1:n.3637T>C | ||
| ENST00000636254.1:n.1094T>C | ||
| ENST00000636930.2:c.5174T>C MANE Select | ENSP00000490491.2:p.Ile1725Thr | |
| ENST00000636940.1:n.3171T>C | ||
| ENST00000637015.1:c.2542T>C | ||
| ENST00000637568.1:c.2456T>C | ||
| ENST00000637741.1:n.1840T>C | ||
| ENST00000637810.1:c.2516T>C | ENSP00000489636.1:p.Ile839Thr | |
| ENST00000637904.1:c.2675T>C | ENSP00000490550.1:p.Ile892Thr | |
| ENST00000647938.1:c.4805T>C | ENSP00000498155.1:p.Ile1602Thr | |
| ENST00000346085.9:c.4805T>C | ENSP00000344546.4:p.Ile1602Thr | |
| ENST00000350026.9:c.4766T>C | ENSP00000055163.7:p.Ile1589Thr | |
| ENST00000414678.6:c.3332T>C | ENSP00000412835.2:p.Ile1111Thr | |
| NM_017519.2:c.4766T>C | NP_059989.2:p.Ile1589Thr | |
| NM_020732.3:c.4805T>C | NP_065783.3:p.Ile1602Thr | |
| XM_005267069.3:c.4925T>C | XP_005267126.2:p.Ile1642Thr | |
| XM_011535984.1:c.4004T>C | XP_011534286.1:p.Ile1335Thr | |
| XM_011535985.1:c.3824T>C | XP_011534287.1:p.Ile1275Thr | |
| XM_011535986.1:c.3584T>C | XP_011534288.1:p.Ile1195Thr | |
| XM_011535987.1:c.3203T>C | XP_011534289.1:p.Ile1068Thr | |
| XM_011535988.1:c.2066T>C | XP_011534290.1:p.Ile689Thr | |
| NM_001346813.1:c.4925T>C | NP_001333742.1:p.Ile1642Thr | |
| NM_001363725.1:c.2675T>C | NP_001350654.1:p.Ile892Thr | |
| XM_011535984.2:c.5135T>C | XP_011534286.2:p.Ile1712Thr | |
| XM_011535988.3:c.2066T>C | XP_011534290.1:p.Ile689Thr | |
| XM_017011103.2:c.5036T>C | XP_016866592.1:p.Ile1679Thr | |
| XM_017011104.1:c.5006T>C | XP_016866593.1:p.Ile1669Thr | |
| XM_017011105.2:c.4976T>C | XP_016866594.1:p.Ile1659Thr | |
| XM_017011106.2:c.4847T>C | XP_016866595.1:p.Ile1616Thr | |
| XM_017011107.2:c.4826T>C | XP_016866596.1:p.Ile1609Thr | |
| XR_002956289.1:n.5121T>C | ||
| NM_001363725.2:c.2675T>C | NP_001350654.1:p.Ile892Thr | |
| NM_001371656.1:c.5054T>C | NP_001358585.1:p.Ile1685Thr | |
| NM_001374820.1:c.5054T>C | NP_001361749.1:p.Ile1685Thr | |
| NM_001374828.1:c.5174T>C MANE Select | NP_001361757.1:p.Ile1725Thr | |
| NM_017519.3:c.5015T>C | NP_059989.3:p.Ile1672Thr |