Linked Data
ClinVar Variation Id:
345557
ClinVar RCV Id:
RCV000339588
dbSNP Id:
rs576080937
gnomAD v2:
3-46752007-G-T
gnomAD v3:
3-46710517-G-T
gnomAD v4:
3-46710517-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46710517G>T , CM000665.2:g.46710517G>T | GRCh38 |
| NC_000003.11:g.46752007G>T , CM000665.1:g.46752007G>T | GRCh37 |
| NC_000003.10:g.46727011G>T | NCBI36 |
| NG_011628.1:g.14185G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.*829G>T MANE Select | ENSP00000494576.2:n.*829G>T | |
| ENST00000644830.1:c.*829G>T | ENSP00000495111.1:n.*829G>T | |
| ENST00000326431.3:c.*829G>T | ENSP00000324775.3:n.*829G>T | |
| NM_147196.2:c.*829G>T | NP_671729.2:n.*829G>T | |
| XM_006713097.2:c.*829G>T | XP_006713160.1:n.*829G>T | |
| XM_011533574.1:c.*829G>T | XP_011531876.1:n.*829G>T | |
| XM_006713097.4:c.*829G>T | XP_006713160.1:n.*829G>T | |
| XM_024453446.1:c.*829G>T | XP_024309214.1:n.*829G>T | |
| NM_001370524.1:c.*829G>T | NP_001357453.1:n.*829G>T | |
| NM_001370525.1:c.*829G>T | NP_001357454.1:n.*829G>T | |
| NM_147196.3:c.*829G>T MANE Select | NP_671729.2:n.*829G>T |