Linked Data
ClinVar Variation Id:
2720564
ClinVar RCV Id:
RCV003587033
dbSNP Id:
rs201742040
ExAC:
14:23884185 G / T
gnomAD v2:
14-23884185-G-T
gnomAD v4:
14-23414976-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23414976G>T , CM000676.2:g.23414976G>T | GRCh38 |
| NC_000014.8:g.23884185G>T , CM000676.1:g.23884185G>T | GRCh37 |
| NC_000014.7:g.22954025G>T | NCBI36 |
| NG_007884.1:g.25686C>A , LRG_384:g.25686C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5559+19C>A MANE Select | ENSP00000347507.3:n.5559+19C>A | |
| ENST00000355349.3:c.5559+19C>A | ENSP00000347507.3:n.5559+19C>A | |
| NM_000257.3:c.5559+19C>A | NP_000248.2:n.5559+19C>A | |
| XM_017021340.1:c.5559+19C>A | XP_016876829.1:n.5559+19C>A | |
| NM_000257.4:c.5559+19C>A MANE Select | NP_000248.2:n.5559+19C>A |