Linked Data
ClinVar Variation Id:
433982
ClinVar RCV Id:
RCV000503171
dbSNP Id:
rs1555453102
gnomAD v4:
16-2106512-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106512C>A , CM000678.2:g.2106512C>A | GRCh38 |
| NC_000016.9:g.2156513C>A , CM000678.1:g.2156513C>A | GRCh37 |
| NC_000016.8:g.2096514C>A | NCBI36 |
| NG_008617.1:g.34387G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7375G>T MANE Select | ENSP00000262304.4:p.Gly2459Cys | |
| ENST00000262304.8:c.7375G>T | ENSP00000262304.4:p.Gly2459Cys | |
| ENST00000415938.7:n.620G>T | ||
| ENST00000423118.5:c.7375G>T | ENSP00000399501.1:p.Gly2459Cys | |
| ENST00000483558.5:n.434G>T | ||
| ENST00000483731.5:n.1100G>T | ||
| ENST00000486339.6:n.1121G>T | ||
| ENST00000487932.5:c.2062G>T | ENSP00000457132.1:p.Gly688Cys | |
| ENST00000496574.6:n.1378G>T | ||
| ENST00000565639.6:n.1083G>T | ||
| ENST00000568591.5:c.2536G>T | ENSP00000457162.1:n.2536G>T | |
| NM_000296.3:c.7375G>T | NP_000287.3:p.Gly2459Cys | |
| NM_001009944.2:c.7375G>T | NP_001009944.2:p.Gly2459Cys | |
| XM_005255370.2:c.4330G>T | XP_005255427.1:p.Gly1444Cys | |
| XM_011522525.1:c.7453G>T | XP_011520827.1:p.Gly2485Cys | |
| XM_011522526.1:c.7453G>T | XP_011520828.1:p.Gly2485Cys | |
| XM_011522527.1:c.7453G>T | XP_011520829.1:p.Gly2485Cys | |
| XM_011522528.1:c.7429G>T | XP_011520830.1:p.Gly2477Cys | |
| XM_011522529.1:c.7429G>T | XP_011520831.1:p.Gly2477Cys | |
| XM_011522530.1:c.7399G>T | XP_011520832.1:p.Gly2467Cys | |
| XM_011522531.1:c.7381G>T | XP_011520833.1:p.Gly2461Cys | |
| XM_011522532.1:c.7327G>T | XP_011520834.1:p.Gly2443Cys | |
| XM_011522533.1:c.7246G>T | XP_011520835.1:p.Gly2416Cys | |
| XM_011522534.1:c.7189G>T | XP_011520836.1:p.Gly2397Cys | |
| XM_011522535.1:c.5275G>T | XP_011520837.1:p.Gly1759Cys | |
| XM_011522536.1:c.7453G>T | XP_011520838.1:p.Gly2485Cys | |
| XM_011522537.1:c.4453G>T | XP_011520839.1:p.Gly1485Cys | |
| XR_932867.1:n.7468G>T | ||
| XR_932868.1:n.7468G>T | ||
| XR_932869.1:n.7468G>T | ||
| XR_932870.1:n.7468G>T | ||
| XM_005255370.3:c.4330G>T | XP_005255427.1:p.Gly1444Cys | |
| XM_011522528.3:c.7429G>T | XP_011520830.1:p.Gly2477Cys | |
| XM_011522529.2:c.7429G>T | XP_011520831.1:p.Gly2477Cys | |
| XM_011522537.2:c.4453G>T | XP_011520839.1:p.Gly1485Cys | |
| XM_024450298.1:c.7495G>T | XP_024306066.1:p.Gly2499Cys | |
| XM_024450299.1:c.7423G>T | XP_024306067.1:p.Gly2475Cys | |
| XM_024450300.1:c.7285G>T | XP_024306068.1:p.Gly2429Cys | |
| XM_024450301.1:c.5371G>T | XP_024306069.1:p.Gly1791Cys | |
| NM_000296.4:c.7375G>T | NP_000287.4:p.Gly2459Cys | |
| NM_001009944.3:c.7375G>T MANE Select | NP_001009944.3:p.Gly2459Cys |