Linked Data
ClinVar Variation Id:
903492
ClinVar RCV Id:
RCV001150858
dbSNP Id:
rs1126680
ExAC:
3:165555125 C / T
gnomAD v2:
3-165555125-C-T
gnomAD v3:
3-165837337-C-T
gnomAD v4:
3-165837337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165837337C>T , CM000665.2:g.165837337C>T | GRCh38 |
| NC_000003.11:g.165555125C>T , CM000665.1:g.165555125C>T | GRCh37 |
| NC_000003.10:g.167037819C>T | NCBI36 |
| NG_009031.1:g.5129G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.-32G>A MANE Select | ENSP00000264381.3:n.-32G>A | |
| ENST00000264381.7:c.-32G>A | ENSP00000264381.3:n.-32G>A | |
| ENST00000479451.5:c.84G>A | ENSP00000418325.1:p.Leu28= | |
| ENST00000482958.1:c.-32G>A | ENSP00000419804.1:n.-32G>A | |
| ENST00000488954.1:c.84G>A | ENSP00000418504.1:p.Leu28= | |
| ENST00000497011.5:c.-32G>A | ENSP00000419505.1:n.-32G>A | |
| NM_000055.2:c.-32G>A | NP_000046.1:n.-32G>A | |
| XM_005247685.1:c.92G>A | XP_005247742.1:p.Cys31Tyr | |
| NM_000055.3:c.-32G>A | NP_000046.1:n.-32G>A | |
| NR_137635.1:n.136G>A | ||
| NR_137636.1:n.136G>A | ||
| NM_000055.4:c.-32G>A MANE Select | NP_000046.1:n.-32G>A | |
| NR_137635.2:n.87G>A | ||
| NR_137636.2:n.87G>A |