Linked Data
ClinVar Variation Id:
2989386
ClinVar RCV Id:
RCV003849537
dbSNP Id:
rs778347500
ExAC:
14:23886914 C / A
gnomAD v2:
14-23886914-C-A
gnomAD v4:
14-23417705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417705C>A , CM000676.2:g.23417705C>A | GRCh38 |
| NC_000014.8:g.23886914C>A , CM000676.1:g.23886914C>A | GRCh37 |
| NC_000014.7:g.22956754C>A | NCBI36 |
| NG_007884.1:g.22957G>T , LRG_384:g.22957G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4170-19G>T MANE Select | ENSP00000347507.3:n.4170-19G>T | |
| ENST00000355349.3:c.4170-19G>T | ENSP00000347507.3:n.4170-19G>T | |
| NM_000257.3:c.4170-19G>T | NP_000248.2:n.4170-19G>T | |
| XM_017021340.1:c.4170-19G>T | XP_016876829.1:n.4170-19G>T | |
| NM_000257.4:c.4170-19G>T MANE Select | NP_000248.2:n.4170-19G>T |