Linked Data
ClinVar Variation Id:
1258187
ClinVar RCV Id:
RCV001669133
dbSNP Id:
rs334558
gnomAD v2:
3-119813282-A-G
gnomAD v3:
3-120094435-A-G
gnomAD v4:
3-120094435-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120094435A>G , CM000665.2:g.120094435A>G | GRCh38 |
| NC_000003.11:g.119813282A>G , CM000665.1:g.119813282A>G | GRCh37 |
| NC_000003.10:g.121295972A>G | NCBI36 |
| NG_012922.1:g.4983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264235.13:c.-1001T>C MANE Select | ENSP00000264235.9:n.-1001T>C | |
| ENST00000677034.1:c.-1001T>C | ENSP00000504055.1:n.-1001T>C | |
| ENST00000677338.1:c.-160+531T>C | ENSP00000503497.1:n.-160+531T>C | |
| ENST00000677903.1:c.-160+108T>C | ENSP00000503112.1:n.-160+108T>C | |
| XR_002959518.1:n.1389T>C | ||
| NM_001146156.2:c.-1001T>C MANE Select | NP_001139628.1:n.-1001T>C | |
| NM_001354596.2:c.-1001T>C | NP_001341525.1:n.-1001T>C | |
| NM_002093.4:c.-1001T>C | NP_002084.2:n.-1001T>C |