Linked Data
ClinVar Variation Id:
1182311
ClinVar RCV Id:
RCV001539917
dbSNP Id:
rs1010
gnomAD v2:
2-85808982-T-C
gnomAD v3:
2-85581859-T-C
gnomAD v4:
2-85581859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85581859T>C , CM000664.2:g.85581859T>C | GRCh38 |
| NC_000002.11:g.85808982T>C , CM000664.1:g.85808982T>C | GRCh37 |
| NC_000002.10:g.85662493T>C | NCBI36 |
| NG_022887.1:g.9369T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263864.10:c.*143T>C MANE Select | ENSP00000263864.5:n.*143T>C | |
| ENST00000263864.9:c.*143T>C | ENSP00000263864.5:n.*143T>C | |
| ENST00000409760.1:c.*279T>C | ENSP00000387094.1:n.*279T>C | |
| ENST00000432071.1:c.*143T>C | ENSP00000407984.1:n.*143T>C | |
| NM_003761.4:c.*143T>C | NP_003752.2:n.*143T>C | |
| XM_017005170.1:c.*279T>C | XP_016860659.1:n.*279T>C | |
| NM_003761.5:c.*143T>C MANE Select | NP_003752.2:n.*143T>C |