Linked Data
ClinVar Variation Id:
1238270
ClinVar RCV Id:
RCV001638673
dbSNP Id:
rs1413390
gnomAD v2:
1-183096634-G-A
gnomAD v3:
1-183127499-G-A
gnomAD v4:
1-183127499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183127499G>A , CM000663.2:g.183127499G>A | GRCh38 |
| NC_000001.10:g.183096634G>A , CM000663.1:g.183096634G>A | GRCh37 |
| NC_000001.9:g.181363257G>A | NCBI36 |
| NG_011463.1:g.109040G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258341.5:c.3123+95G>A MANE Select | ENSP00000258341.3:n.3123+95G>A | |
| ENST00000258341.4:c.3123+95G>A | ENSP00000258341.3:n.3123+95G>A | |
| ENST00000466964.1:n.685+95G>A | ||
| NM_002293.3:c.3123+95G>A | NP_002284.3:n.3123+95G>A | |
| NM_002293.4:c.3123+95G>A MANE Select | NP_002284.3:n.3123+95G>A |