Linked Data
ClinVar Variation Id:
194317
dbSNP Id:
rs794727113
gnomAD v2:
17-7127311-C-T
gnomAD v3:
17-7223992-C-T
gnomAD v4:
17-7223992-C-T
ERepo:
CA274997/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223992C>T , CM000679.2:g.7223992C>T | GRCh38 |
| NC_000017.10:g.7127311C>T , CM000679.1:g.7127311C>T | GRCh37 |
| NC_000017.9:g.7068035C>T | NCBI36 |
| NG_007975.1:g.9159C>T | |
| NG_008391.2:g.1059G>A | |
| NG_033038.1:g.15553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1357C>T MANE Select | ENSP00000349297.5:p.Arg453Ter | |
| ENST00000322910.9:c.*1312C>T | ENSP00000325395.5:n.*1312C>T | |
| ENST00000350303.9:c.1291C>T | ENSP00000344152.5:p.Arg431Ter | |
| ENST00000356839.9:c.1357C>T | ENSP00000349297.5:p.Arg453Ter | |
| ENST00000542255.6:c.215C>T | ||
| ENST00000543245.6:c.1426C>T | ENSP00000438689.2:p.Arg476Ter | |
| ENST00000578711.1:n.488C>T | ||
| ENST00000579425.5:n.473C>T | ||
| ENST00000579546.1:c.194C>T | ||
| ENST00000579894.5:n.68C>T | ||
| ENST00000583074.5:n.76C>T | ||
| ENST00000583850.5:n.132C>T | ||
| ENST00000583858.5:c.386C>T | ||
| ENST00000585203.6:n.548C>T | ||
| NM_000018.3:c.1357C>T | NP_000009.1:p.Arg453Ter | |
| NM_001033859.2:c.1291C>T | NP_001029031.1:p.Arg431Ter | |
| NM_001270447.1:c.1426C>T | NP_001257376.1:p.Arg476Ter | |
| NM_001270448.1:c.1129C>T | NP_001257377.1:p.Arg377Ter | |
| XM_006721516.2:c.1357C>T | XP_006721579.2:p.Arg453Ter | |
| XM_011523829.1:c.1357C>T | XP_011522131.1:p.Arg453Ter | |
| XM_011523830.1:c.1357C>T | XP_011522132.1:p.Arg453Ter | |
| XR_934021.1:n.1464C>T | ||
| XR_934022.1:n.1464C>T | ||
| XR_934023.1:n.1464C>T | ||
| XM_006721516.3:c.1357C>T | XP_006721579.2:p.Arg453Ter | |
| XM_011523829.2:c.1357C>T | XP_011522131.1:p.Arg453Ter | |
| XM_011523830.2:c.1357C>T | XP_011522132.1:p.Arg453Ter | |
| XM_024450741.1:c.1357C>T | XP_024306509.1:p.Arg453Ter | |
| XR_934021.2:n.1416C>T | ||
| XR_934022.2:n.1416C>T | ||
| XR_934023.2:n.1416C>T | ||
| NM_000018.4:c.1357C>T MANE Select | NP_000009.1:p.Arg453Ter | |
| NM_001033859.3:c.1291C>T | NP_001029031.1:p.Arg431Ter | |
| NM_001270447.2:c.1426C>T | NP_001257376.1:p.Arg476Ter | |
| NM_001270448.2:c.1129C>T | NP_001257377.1:p.Arg377Ter |