Linked Data
ClinVar Variation Id:
1198037
ClinVar RCV Id:
RCV001562065
dbSNP Id:
rs45489294
gnomAD v2:
14-23887134-G-T
gnomAD v3:
14-23417925-G-T
gnomAD v4:
14-23417925-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417925G>T , CM000676.2:g.23417925G>T | GRCh38 |
| NC_000014.8:g.23887134G>T , CM000676.1:g.23887134G>T | GRCh37 |
| NC_000014.7:g.22956974G>T | NCBI36 |
| NG_007884.1:g.22737C>A , LRG_384:g.22737C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.4170-239C>A MANE Select | ENSP00000347507.3:n.4170-239C>A | |
| ENST00000355349.3:c.4170-239C>A | ENSP00000347507.3:n.4170-239C>A | |
| NM_000257.3:c.4170-239C>A | NP_000248.2:n.4170-239C>A | |
| XM_017021340.1:c.4170-239C>A | XP_016876829.1:n.4170-239C>A | |
| NM_000257.4:c.4170-239C>A MANE Select | NP_000248.2:n.4170-239C>A |