Linked Data
ClinVar Variation Id:
325391
dbSNP Id:
rs17855420
ExAC:
17:73953620 G / A
gnomAD v2:
17-73953620-G-A
gnomAD v3:
17-75957539-G-A
gnomAD v4:
17-75957539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75957539G>A , CM000679.2:g.75957539G>A | GRCh38 |
| NC_000017.10:g.73953620G>A , CM000679.1:g.73953620G>A | GRCh37 |
| NC_000017.9:g.71465215G>A | NCBI36 |
| NG_008190.1:g.26825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.458C>T | ENSP00000301608.4:p.Thr153Ile | |
| ENST00000293217.10:c.458C>T MANE Select | ENSP00000293217.4:p.Thr153Ile | |
| ENST00000293217.9:c.458C>T | ENSP00000293217.4:p.Thr153Ile | |
| ENST00000301608.8:c.458C>T | ENSP00000301608.4:p.Thr153Ile | |
| ENST00000572047.5:c.632C>T | ENSP00000459936.1:n.632C>T | |
| ENST00000573078.5:c.619C>T | ENSP00000458325.1:p.Gln207Ter | |
| ENST00000588176.5:c.431-1592C>T | ENSP00000466210.1:n.431-1592C>T | |
| ENST00000589301.1:c.*255C>T | ENSP00000468435.1:n.*255C>T | |
| ENST00000591857.5:n.476C>T | ||
| NM_001185039.1:c.344C>T | NP_001171968.1:p.Thr115Ile | |
| NM_004035.6:c.458C>T | NP_004026.2:p.Thr153Ile | |
| NM_007292.5:c.458C>T | NP_009223.2:p.Thr153Ile | |
| XM_011524868.1:c.254C>T | XP_011523170.1:p.Thr85Ile | |
| XM_011524869.1:c.50C>T | XP_011523171.1:p.Thr17Ile | |
| XM_011524868.3:c.254C>T | XP_011523170.1:p.Thr85Ile | |
| XM_011524869.3:c.50C>T | XP_011523171.1:p.Thr17Ile | |
| NM_004035.7:c.458C>T MANE Select | NP_004026.2:p.Thr153Ile | |
| NM_001185039.2:c.344C>T | NP_001171968.1:p.Thr115Ile | |
| NM_007292.6:c.458C>T | NP_009223.2:p.Thr153Ile |