Linked Data
ClinVar Variation Id:
338185
ClinVar RCV Id:
RCV000332814
dbSNP Id:
rs148465200
gnomAD v2:
20-31395764-G-T
gnomAD v3:
20-32807958-G-T
gnomAD v4:
20-32807958-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807958G>T , CM000682.2:g.32807958G>T | GRCh38 |
| NC_000020.10:g.31395764G>T , CM000682.1:g.31395764G>T | GRCh37 |
| NC_000020.9:g.30859425G>T | NCBI36 |
| NG_007290.1:g.50574G>T , LRG_56:g.50574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1568G>T | ENSP00000512497.1:n.*1568G>T | |
| ENST00000696232.1:c.*55G>T | ENSP00000512498.1:n.*55G>T | |
| ENST00000696233.1:c.*1171G>T | ENSP00000512499.1:n.*1171G>T | |
| ENST00000696238.1:c.*1360G>T | ENSP00000512502.1:n.*1360G>T | |
| ENST00000696245.1:n.642G>T | ||
| ENST00000201963.3:c.*55G>T | ENSP00000201963.3:n.*55G>T | |
| ENST00000328111.6:c.*55G>T MANE Select | ENSP00000328547.2:n.*55G>T | |
| ENST00000348286.6:c.*55G>T | ENSP00000337764.2:n.*55G>T | |
| ENST00000353855.6:c.*55G>T | ENSP00000313397.4:n.*55G>T | |
| ENST00000443239.7:c.*55G>T | ENSP00000403169.2:n.*55G>T | |
| ENST00000456297.6:c.*55G>T | ENSP00000412305.1:n.*55G>T | |
| NM_001207055.1:c.*55G>T | NP_001193984.1:n.*55G>T | |
| NM_001207056.1:c.*55G>T | NP_001193985.1:n.*55G>T | |
| NM_006892.3:c.*55G>T , LRG_56t1:c.*55G>T | NP_008823.1:n.*55G>T | |
| NM_175848.1:c.*55G>T | NP_787044.1:n.*55G>T | |
| NM_175849.1:c.*55G>T | NP_787045.1:n.*55G>T | |
| NM_175850.2:c.*55G>T | NP_787046.1:n.*55G>T | |
| XM_011528653.1:c.*55G>T | XP_011526955.1:n.*55G>T | |
| XM_011528654.1:c.*55G>T | XP_011526956.1:n.*55G>T | |
| XR_936511.1:n.2395G>T | ||
| XM_011528653.2:c.*55G>T | XP_011526955.1:n.*55G>T | |
| XM_011528654.2:c.*55G>T | XP_011526956.1:n.*55G>T | |
| XR_936511.2:n.2406G>T | ||
| NM_001207055.2:c.*55G>T | NP_001193984.1:n.*55G>T | |
| NM_001207056.2:c.*55G>T | NP_001193985.1:n.*55G>T | |
| NM_006892.4:c.*55G>T MANE Select | NP_008823.1:n.*55G>T | |
| NM_175848.2:c.*55G>T | NP_787044.1:n.*55G>T | |
| NM_175849.2:c.*55G>T | NP_787045.1:n.*55G>T | |
| NM_175850.3:c.*55G>T | NP_787046.1:n.*55G>T |