Linked Data
ClinVar Variation Id:
639949
ClinVar RCV Id:
RCV000792876
dbSNP Id:
rs1241935771
gnomAD v4:
17-7222018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222018C>T , CM000679.2:g.7222018C>T | GRCh38 |
| NC_000017.10:g.7125337C>T , CM000679.1:g.7125337C>T | GRCh37 |
| NC_000017.9:g.7066061C>T | NCBI36 |
| NG_007975.1:g.7185C>T | |
| NG_008391.2:g.3033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.689C>T MANE Select | ENSP00000349297.5:p.Thr230Ile | |
| ENST00000322910.9:c.*644C>T | ENSP00000325395.5:n.*644C>T | |
| ENST00000350303.9:c.623C>T | ENSP00000344152.5:p.Thr208Ile | |
| ENST00000356839.9:c.689C>T | ENSP00000349297.5:p.Thr230Ile | |
| ENST00000543245.6:c.758C>T | ENSP00000438689.2:p.Thr253Ile | |
| ENST00000577191.5:n.766C>T | ||
| ENST00000577857.5:n.505C>T | ||
| ENST00000579286.5:n.870C>T | ||
| ENST00000580365.1:n.420C>T | ||
| ENST00000581378.5:c.407C>T | ||
| ENST00000582379.1:n.73C>T | ||
| ENST00000583760.1:n.471C>T | ||
| NM_000018.3:c.689C>T | NP_000009.1:p.Thr230Ile | |
| NM_001033859.2:c.623C>T | NP_001029031.1:p.Thr208Ile | |
| NM_001270447.1:c.758C>T | NP_001257376.1:p.Thr253Ile | |
| NM_001270448.1:c.461C>T | NP_001257377.1:p.Thr154Ile | |
| XM_006721516.2:c.689C>T | XP_006721579.2:p.Thr230Ile | |
| XM_011523829.1:c.689C>T | XP_011522131.1:p.Thr230Ile | |
| XM_011523830.1:c.689C>T | XP_011522132.1:p.Thr230Ile | |
| XR_934021.1:n.796C>T | ||
| XR_934022.1:n.796C>T | ||
| XR_934023.1:n.796C>T | ||
| XM_006721516.3:c.689C>T | XP_006721579.2:p.Thr230Ile | |
| XM_011523829.2:c.689C>T | XP_011522131.1:p.Thr230Ile | |
| XM_011523830.2:c.689C>T | XP_011522132.1:p.Thr230Ile | |
| XM_024450741.1:c.689C>T | XP_024306509.1:p.Thr230Ile | |
| XR_934021.2:n.748C>T | ||
| XR_934022.2:n.748C>T | ||
| XR_934023.2:n.748C>T | ||
| NM_000018.4:c.689C>T MANE Select | NP_000009.1:p.Thr230Ile | |
| NM_001033859.3:c.623C>T | NP_001029031.1:p.Thr208Ile | |
| NM_001270447.2:c.758C>T | NP_001257376.1:p.Thr253Ile | |
| NM_001270448.2:c.461C>T | NP_001257377.1:p.Thr154Ile |