Linked Data
ClinVar Variation Id:
189159
ClinVar RCV Id:
RCV000169585
dbSNP Id:
rs786204738
gnomAD v4:
17-7221014-C-T
ERepo:
CA274436/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221014C>T , CM000679.2:g.7221014C>T | GRCh38 |
| NC_000017.10:g.7124333C>T , CM000679.1:g.7124333C>T | GRCh37 |
| NC_000017.9:g.7065057C>T | NCBI36 |
| NG_007975.1:g.6181C>T | |
| NG_008391.2:g.4037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.433C>T MANE Select | ENSP00000349297.5:p.Gln145Ter | |
| ENST00000322910.9:c.*388C>T | ENSP00000325395.5:n.*388C>T | |
| ENST00000350303.9:c.367C>T | ENSP00000344152.5:p.Gln123Ter | |
| ENST00000356839.9:c.433C>T | ENSP00000349297.5:p.Gln145Ter | |
| ENST00000543245.6:c.502C>T | ENSP00000438689.2:p.Gln168Ter | |
| ENST00000577191.5:n.510C>T | ||
| ENST00000577433.5:n.641C>T | ||
| ENST00000577857.5:n.293+184C>T | ||
| ENST00000579286.5:n.614C>T | ||
| ENST00000579886.2:c.271C>T | ENSP00000463246.1:p.Gln91Ter | |
| ENST00000580365.1:n.164C>T | ||
| ENST00000581378.5:c.132C>T | ||
| ENST00000581562.5:n.480C>T | ||
| ENST00000582056.5:n.616C>T | ||
| ENST00000582166.1:n.414C>T | ||
| ENST00000583312.5:c.433C>T | ENSP00000467920.1:p.Gln145Ter | |
| ENST00000584103.5:c.466C>T | ENSP00000465353.1:p.Gln156Ter | |
| NM_000018.3:c.433C>T | NP_000009.1:p.Gln145Ter | |
| NM_001033859.2:c.367C>T | NP_001029031.1:p.Gln123Ter | |
| NM_001270447.1:c.502C>T | NP_001257376.1:p.Gln168Ter | |
| NM_001270448.1:c.205C>T | NP_001257377.1:p.Gln69Ter | |
| XM_006721516.2:c.433C>T | XP_006721579.2:p.Gln145Ter | |
| XM_011523829.1:c.433C>T | XP_011522131.1:p.Gln145Ter | |
| XM_011523830.1:c.433C>T | XP_011522132.1:p.Gln145Ter | |
| XR_934021.1:n.540C>T | ||
| XR_934022.1:n.540C>T | ||
| XR_934023.1:n.540C>T | ||
| XM_006721516.3:c.433C>T | XP_006721579.2:p.Gln145Ter | |
| XM_011523829.2:c.433C>T | XP_011522131.1:p.Gln145Ter | |
| XM_011523830.2:c.433C>T | XP_011522132.1:p.Gln145Ter | |
| XM_024450741.1:c.433C>T | XP_024306509.1:p.Gln145Ter | |
| XR_934021.2:n.492C>T | ||
| XR_934022.2:n.492C>T | ||
| XR_934023.2:n.492C>T | ||
| NM_000018.4:c.433C>T MANE Select | NP_000009.1:p.Gln145Ter | |
| NM_001033859.3:c.367C>T | NP_001029031.1:p.Gln123Ter | |
| NM_001270447.2:c.502C>T | NP_001257376.1:p.Gln168Ter | |
| NM_001270448.2:c.205C>T | NP_001257377.1:p.Gln69Ter |