Linked Data
ClinVar Variation Id:
1928971
ClinVar RCV Id:
RCV002642263
dbSNP Id:
rs377044444
gnomAD v4:
17-7225002-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225002C>A , CM000679.2:g.7225002C>A | GRCh38 |
| NC_000017.10:g.7128321C>A , CM000679.1:g.7128321C>A | GRCh37 |
| NC_000017.9:g.7069045C>A | NCBI36 |
| NG_007975.1:g.10169C>A | |
| NG_008391.2:g.49G>T | |
| NG_033038.1:g.14543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1873C>A MANE Select | ENSP00000349297.5:p.Pro625Thr | |
| ENST00000322910.9:c.*1828C>A | ENSP00000325395.5:n.*1828C>A | |
| ENST00000350303.9:c.1807C>A | ENSP00000344152.5:p.Pro603Thr | |
| ENST00000356839.9:c.1873C>A | ENSP00000349297.5:p.Pro625Thr | |
| ENST00000542255.6:c.752C>A | ||
| ENST00000543245.6:c.1942C>A | ENSP00000438689.2:p.Pro648Thr | |
| ENST00000578033.1:n.298C>A | ||
| ENST00000578319.5:n.454C>A | ||
| ENST00000578711.1:n.1498C>A | ||
| ENST00000578809.5:n.445C>A | ||
| ENST00000579425.5:n.989C>A | ||
| ENST00000583848.5:c.239C>A | ENSP00000466487.1:n.239C>A | |
| ENST00000583850.5:n.644C>A | ||
| ENST00000583858.5:c.804C>A | ||
| NM_000018.3:c.1873C>A | NP_000009.1:p.Pro625Thr | |
| NM_001033859.2:c.1807C>A | NP_001029031.1:p.Pro603Thr | |
| NM_001270447.1:c.1942C>A | NP_001257376.1:p.Pro648Thr | |
| NM_001270448.1:c.1645C>A | NP_001257377.1:p.Pro549Thr | |
| XM_006721516.2:c.1894C>A | XP_006721579.2:p.Pro632Thr | |
| XM_011523829.1:c.1792C>A | XP_011522131.1:p.Pro598Thr | |
| XM_011523830.1:c.1771C>A | XP_011522132.1:p.Pro591Thr | |
| XR_934021.1:n.1976C>A | ||
| XR_934022.1:n.1882C>A | ||
| XR_934023.1:n.1903C>A | ||
| XM_006721516.3:c.1894C>A | XP_006721579.2:p.Pro632Thr | |
| XM_011523829.2:c.1792C>A | XP_011522131.1:p.Pro598Thr | |
| XM_011523830.2:c.1771C>A | XP_011522132.1:p.Pro591Thr | |
| XM_024450741.1:c.1861C>A | XP_024306509.1:p.Pro621Thr | |
| XR_934021.2:n.1928C>A | ||
| XR_934022.2:n.1834C>A | ||
| XR_934023.2:n.1855C>A | ||
| NM_000018.4:c.1873C>A MANE Select | NP_000009.1:p.Pro625Thr | |
| NM_001033859.3:c.1807C>A | NP_001029031.1:p.Pro603Thr | |
| NM_001270447.2:c.1942C>A | NP_001257376.1:p.Pro648Thr | |
| NM_001270448.2:c.1645C>A | NP_001257377.1:p.Pro549Thr |