Linked Data
dbSNP Id:
rs752735535
ExAC:
1:67724744 T / C
gnomAD v2:
1-67724744-T-C
gnomAD v3:
1-67259061-T-C
gnomAD v4:
1-67259061-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259061T>C , CM000663.2:g.67259061T>C | GRCh38 |
| NC_000001.10:g.67724744T>C , CM000663.1:g.67724744T>C | GRCh37 |
| NC_000001.9:g.67497332T>C | NCBI36 |
| NG_011498.1:g.97576T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1662T>C | ENSP00000513138.1:n.1662T>C | |
| ENST00000697150.1:c.1720T>C | ENSP00000513139.1:n.1720T>C | |
| ENST00000697151.1:c.1653T>C | ENSP00000513140.1:n.1653T>C | |
| ENST00000697164.1:c.1733T>C | ENSP00000513153.1:p.Ile578Thr | |
| ENST00000697165.1:c.1520T>C | ENSP00000513154.1:p.Ile507Thr | |
| ENST00000347310.10:c.1823T>C MANE Select | ENSP00000321345.5:p.Ile608Thr | |
| ENST00000637002.1:c.1214T>C | ENSP00000490340.1:p.Ile405Thr | |
| ENST00000347310.9:c.1823T>C | ENSP00000321345.5:p.Ile608Thr | |
| ENST00000395227.2:c.617T>C | ENSP00000378652.2:p.Ile206Thr | |
| ENST00000425614.3:c.1058T>C | ENSP00000387640.2:p.Ile353Thr | |
| ENST00000473881.2:c.*649T>C | ENSP00000486667.1:n.*649T>C | |
| NM_144701.2:c.1823T>C | NP_653302.2:p.Ile608Thr | |
| XM_005270516.2:c.1061T>C | XP_005270573.1:p.Ile354Thr | |
| XM_011540789.1:c.1913T>C | XP_011539091.1:p.Ile638Thr | |
| XM_011540790.1:c.1823T>C | XP_011539092.1:p.Ile608Thr | |
| XM_011540791.1:c.1823T>C | XP_011539093.1:p.Ile608Thr | |
| XM_011540790.3:c.1823T>C | XP_011539092.1:p.Ile608Thr | |
| XM_011540791.3:c.1823T>C | XP_011539093.1:p.Ile608Thr | |
| XR_001736993.1:n.1903T>C | ||
| NM_144701.3:c.1823T>C MANE Select | NP_653302.2:p.Ile608Thr |