Linked Data
ClinVar Variation Id:
458
ClinVar RCV Id:
RCV000000487
dbSNP Id:
rs121917871
gnomAD v4:
3-98593420-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593420G>A , CM000665.2:g.98593420G>A | GRCh38 |
| NC_000003.11:g.98312264G>A , CM000665.1:g.98312264G>A | GRCh37 |
| NC_000003.10:g.99794954G>A | NCBI36 |
| NG_015994.1:g.5192C>T | |
| NG_015994.2:g.5192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647941.2:c.85C>T MANE Select | ENSP00000497326.1:p.Gln29Ter | |
| ENST00000264193.2:c.85C>T | ENSP00000264193.2:p.Gln29Ter | |
| ENST00000513674.1:c.85C>T | ENSP00000424924.1:p.Gln29Ter | |
| ENST00000515041.1:n.191C>T | ||
| NM_000097.5:c.85C>T | NP_000088.3:p.Gln29Ter | |
| XM_005247125.3:c.85C>T | XP_005247182.1:p.Gln29Ter | |
| XM_011512437.1:c.85C>T | XP_011510739.1:p.Gln29Ter | |
| NM_000097.7:c.85C>T MANE Select | NP_000088.3:p.Gln29Ter | |
| XM_005247125.4:c.85C>T | XP_005247182.1:p.Gln29Ter | |
| XR_001740025.2:n.256C>T | ||
| XR_001740026.1:n.261C>T | ||
| XR_001740027.1:n.265C>T | ||
| XR_001740028.1:n.265C>T |