Linked Data
ClinVar Variation Id:
675881
ClinVar RCV Id:
RCV000835265
dbSNP Id:
rs79015823
gnomAD v2:
14-23891636-C-T
gnomAD v3:
14-23422427-C-T
gnomAD v4:
14-23422427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422427C>T , CM000676.2:g.23422427C>T | GRCh38 |
| NC_000014.8:g.23891636C>T , CM000676.1:g.23891636C>T | GRCh37 |
| NC_000014.7:g.22961476C>T | NCBI36 |
| NG_007884.1:g.18235G>A , LRG_384:g.18235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3100-102G>A MANE Select | ENSP00000347507.3:n.3100-102G>A | |
| ENST00000355349.3:c.3100-102G>A | ENSP00000347507.3:n.3100-102G>A | |
| NM_000257.3:c.3100-102G>A | NP_000248.2:n.3100-102G>A | |
| XR_245686.3:n.3206-102G>A | ||
| XM_017021340.1:c.3100-102G>A | XP_016876829.1:n.3100-102G>A | |
| NM_000257.4:c.3100-102G>A MANE Select | NP_000248.2:n.3100-102G>A |