Linked Data
ClinVar Variation Id:
301347
ClinVar RCV Id:
RCV001660584
dbSNP Id:
rs34755052
gnomAD v2:
10-88516595-T-C
gnomAD v3:
10-86756838-T-C
gnomAD v4:
10-86756838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86756838T>C , CM000672.2:g.86756838T>C | GRCh38 |
| NC_000010.10:g.88516595T>C , CM000672.1:g.88516595T>C | GRCh37 |
| NC_000010.9:g.88506575T>C | NCBI36 |
| NG_009362.1:g.5200T>C , LRG_298:g.5200T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480152.3:c.-454T>C | ENSP00000483569.2:n.-454T>C | |
| ENST00000635816.2:c.-349T>C | ENSP00000489707.1:n.-349T>C | |
| ENST00000636056.2:c.-349T>C | ENSP00000490273.1:n.-349T>C | |
| ENST00000372037.8:c.-349T>C MANE Select | ENSP00000361107.2:n.-349T>C | |
| ENST00000638429.1:c.-349T>C | ENSP00000492290.1:n.-349T>C | |
| ENST00000372037.7:c.-349T>C | ENSP00000361107.1:n.-349T>C | |
| NM_004329.2:c.-349T>C , LRG_298t1:c.-349T>C | NP_004320.2:n.-349T>C | |
| XM_011540103.1:c.-268+875T>C | XP_011538405.1:n.-268+875T>C | |
| XM_011540104.1:c.-454T>C | XP_011538406.1:n.-454T>C | |
| XM_011540103.2:c.-268+875T>C | XP_011538405.1:n.-268+875T>C | |
| XM_011540104.2:c.-454T>C | XP_011538406.1:n.-454T>C | |
| NM_004329.3:c.-349T>C MANE Select | NP_004320.2:n.-349T>C |