Linked Data
dbSNP Id:
rs750448419
ExAC:
1:62913216 T / A
gnomAD v2:
1-62913216-T-A
gnomAD v3:
1-62447545-T-A
gnomAD v4:
1-62447545-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447545T>A , CM000663.2:g.62447545T>A | GRCh38 |
| NC_000001.10:g.62913216T>A , CM000663.1:g.62913216T>A | GRCh37 |
| NC_000001.9:g.62685804T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1420+34T>A MANE Select | ENSP00000343526.4:n.1420+34T>A | |
| ENST00000339950.4:c.1420+34T>A | ENSP00000343526.4:n.1420+34T>A | |
| ENST00000371146.5:c.1420+34T>A | ENSP00000360188.1:n.1420+34T>A | |
| NM_001017415.1:c.1420+34T>A | NP_001017415.1:n.1420+34T>A | |
| NM_001017416.1:c.1420+34T>A | NP_001017416.1:n.1420+34T>A | |
| NM_003368.4:c.1420+34T>A | NP_003359.3:n.1420+34T>A | |
| NM_003368.5:c.1420+34T>A MANE Select | NP_003359.3:n.1420+34T>A | |
| NM_001017415.2:c.1420+34T>A | NP_001017415.1:n.1420+34T>A | |
| NM_001017416.2:c.1420+34T>A | NP_001017416.1:n.1420+34T>A |