Linked Data
ClinVar Variation Id:
345556
ClinVar RCV Id:
RCV000284612
dbSNP Id:
rs557803959
gnomAD v2:
3-46751945-G-A
gnomAD v3:
3-46710455-G-A
gnomAD v4:
3-46710455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46710455G>A , CM000665.2:g.46710455G>A | GRCh38 |
| NC_000003.11:g.46751945G>A , CM000665.1:g.46751945G>A | GRCh37 |
| NC_000003.10:g.46726949G>A | NCBI36 |
| NG_011628.1:g.14123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.*767G>A MANE Select | ENSP00000494576.2:n.*767G>A | |
| ENST00000644830.1:c.*767G>A | ENSP00000495111.1:n.*767G>A | |
| ENST00000326431.3:c.*767G>A | ENSP00000324775.3:n.*767G>A | |
| NM_147196.2:c.*767G>A | NP_671729.2:n.*767G>A | |
| XM_006713097.2:c.*767G>A | XP_006713160.1:n.*767G>A | |
| XM_011533574.1:c.*767G>A | XP_011531876.1:n.*767G>A | |
| XM_006713097.4:c.*767G>A | XP_006713160.1:n.*767G>A | |
| XM_024453446.1:c.*767G>A | XP_024309214.1:n.*767G>A | |
| NM_001370524.1:c.*767G>A | NP_001357453.1:n.*767G>A | |
| NM_001370525.1:c.*767G>A | NP_001357454.1:n.*767G>A | |
| NM_147196.3:c.*767G>A MANE Select | NP_671729.2:n.*767G>A |