Linked Data
ClinVar Variation Id:
1054523
ClinVar RCV Id:
RCV001363043
dbSNP Id:
rs1973360489
gnomAD v4:
19-38565400-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565400G>T , CM000681.2:g.38565400G>T | GRCh38 |
| NC_000019.9:g.39056040G>T , CM000681.1:g.39056040G>T | GRCh37 |
| NC_000019.8:g.43747880G>T | NCBI36 |
| NG_008866.1:g.136701G>T , LRG_766:g.136701G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.2G>T | ||
| ENST00000688602.1:c.1476G>T | ||
| ENST00000689936.1:c.1458G>T | ||
| ENST00000359596.8:c.13066G>T MANE Select | ENSP00000352608.2:p.Gly4356Cys | |
| ENST00000355481.8:c.13051G>T | ENSP00000347667.3:p.Gly4351Cys | |
| ENST00000359596.7:c.13066G>T | ENSP00000352608.2:p.Gly4356Cys | |
| ENST00000360985.7:c.13048G>T | ENSP00000354254.4:p.Gly4350Cys | |
| NM_000540.2:c.13066G>T , LRG_766t1:c.13066G>T | NP_000531.2:p.Gly4356Cys | |
| NM_001042723.1:c.13051G>T | NP_001036188.1:p.Gly4351Cys | |
| XM_006723317.1:c.13048G>T | XP_006723380.1:p.Gly4350Cys | |
| XM_006723319.1:c.13033G>T | XP_006723382.1:p.Gly4345Cys | |
| XM_011527204.1:c.13063G>T | XP_011525506.1:p.Gly4355Cys | |
| XM_011527205.1:c.13066G>T | XP_011525507.1:p.Gly4356Cys | |
| XM_006723317.2:c.13048G>T | XP_006723380.1:p.Gly4350Cys | |
| XM_006723319.2:c.13033G>T | XP_006723382.1:p.Gly4345Cys | |
| XM_011527205.2:c.13066G>T | XP_011525507.1:p.Gly4356Cys | |
| NM_000540.3:c.13066G>T MANE Select | NP_000531.2:p.Gly4356Cys | |
| NM_001042723.2:c.13051G>T | NP_001036188.1:p.Gly4351Cys |