Linked Data
ClinVar Variation Id:
765334
ClinVar RCV Id:
RCV001465414
dbSNP Id:
rs749436149
ExAC:
17:7125338 C / T
gnomAD v2:
17-7125338-C-T
gnomAD v3:
17-7222019-C-T
gnomAD v4:
17-7222019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222019C>T , CM000679.2:g.7222019C>T | GRCh38 |
| NC_000017.10:g.7125338C>T , CM000679.1:g.7125338C>T | GRCh37 |
| NC_000017.9:g.7066062C>T | NCBI36 |
| NG_007975.1:g.7186C>T | |
| NG_008391.2:g.3032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.690C>T MANE Select | ENSP00000349297.5:p.Thr230= | |
| ENST00000322910.9:c.*645C>T | ENSP00000325395.5:n.*645C>T | |
| ENST00000350303.9:c.624C>T | ENSP00000344152.5:p.Thr208= | |
| ENST00000356839.9:c.690C>T | ENSP00000349297.5:p.Thr230= | |
| ENST00000543245.6:c.759C>T | ENSP00000438689.2:p.Thr253= | |
| ENST00000577191.5:n.767C>T | ||
| ENST00000577857.5:n.506C>T | ||
| ENST00000579286.5:n.871C>T | ||
| ENST00000580365.1:n.421C>T | ||
| ENST00000581378.5:c.408C>T | ||
| ENST00000582379.1:n.74C>T | ||
| ENST00000583760.1:n.472C>T | ||
| NM_000018.3:c.690C>T | NP_000009.1:p.Thr230= | |
| NM_001033859.2:c.624C>T | NP_001029031.1:p.Thr208= | |
| NM_001270447.1:c.759C>T | NP_001257376.1:p.Thr253= | |
| NM_001270448.1:c.462C>T | NP_001257377.1:p.Thr154= | |
| XM_006721516.2:c.690C>T | XP_006721579.2:p.Thr230= | |
| XM_011523829.1:c.690C>T | XP_011522131.1:p.Thr230= | |
| XM_011523830.1:c.690C>T | XP_011522132.1:p.Thr230= | |
| XR_934021.1:n.797C>T | ||
| XR_934022.1:n.797C>T | ||
| XR_934023.1:n.797C>T | ||
| XM_006721516.3:c.690C>T | XP_006721579.2:p.Thr230= | |
| XM_011523829.2:c.690C>T | XP_011522131.1:p.Thr230= | |
| XM_011523830.2:c.690C>T | XP_011522132.1:p.Thr230= | |
| XM_024450741.1:c.690C>T | XP_024306509.1:p.Thr230= | |
| XR_934021.2:n.749C>T | ||
| XR_934022.2:n.749C>T | ||
| XR_934023.2:n.749C>T | ||
| NM_000018.4:c.690C>T MANE Select | NP_000009.1:p.Thr230= | |
| NM_001033859.3:c.624C>T | NP_001029031.1:p.Thr208= | |
| NM_001270447.2:c.759C>T | NP_001257376.1:p.Thr253= | |
| NM_001270448.2:c.462C>T | NP_001257377.1:p.Thr154= |