Linked Data
ClinVar Variation Id:
346999
ClinVar RCV Id:
RCV000268101
dbSNP Id:
rs75986763
gnomAD v2:
3-98312402-G-A
gnomAD v3:
3-98593558-G-A
gnomAD v4:
3-98593558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593558G>A , CM000665.2:g.98593558G>A | GRCh38 |
| NC_000003.11:g.98312402G>A , CM000665.1:g.98312402G>A | GRCh37 |
| NC_000003.10:g.99795092G>A | NCBI36 |
| NG_015994.1:g.5054C>T | |
| NG_015994.2:g.5054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.-54C>T MANE Select | ENSP00000497326.1:n.-54C>T | |
| ENST00000264193.2:c.-54C>T | ENSP00000264193.2:n.-54C>T | |
| ENST00000513674.1:c.-54C>T | ENSP00000424924.1:n.-54C>T | |
| ENST00000515041.1:n.53C>T | ||
| NM_000097.5:c.-54C>T | NP_000088.3:n.-54C>T | |
| XM_005247125.3:c.-54C>T | XP_005247182.1:n.-54C>T | |
| XM_011512437.1:c.-54C>T | XP_011510739.1:n.-54C>T | |
| NM_000097.7:c.-54C>T MANE Select | NP_000088.3:n.-54C>T | |
| XM_005247125.4:c.-54C>T | XP_005247182.1:n.-54C>T | |
| XR_001740025.2:n.118C>T | ||
| XR_001740026.1:n.123C>T | ||
| XR_001740027.1:n.127C>T | ||
| XR_001740028.1:n.127C>T |