Linked Data
ClinVar Variation Id:
3072205
ClinVar RCV Id:
RCV004012235
dbSNP Id:
rs777675103
ExAC:
14:23892815 C / T
gnomAD v2:
14-23892815-C-T
gnomAD v4:
14-23423606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423606C>T , CM000676.2:g.23423606C>T | GRCh38 |
| NC_000014.8:g.23892815C>T , CM000676.1:g.23892815C>T | GRCh37 |
| NC_000014.7:g.22962655C>T | NCBI36 |
| NG_007884.1:g.17056G>A , LRG_384:g.17056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3040G>A MANE Select | ENSP00000347507.3:p.Glu1014Lys | |
| ENST00000355349.3:c.3040G>A | ENSP00000347507.3:p.Glu1014Lys | |
| NM_000257.3:c.3040G>A | NP_000248.2:p.Glu1014Lys | |
| XR_245686.3:n.3146G>A | ||
| XM_017021340.1:c.3040G>A | XP_016876829.1:p.Glu1014Lys | |
| NM_000257.4:c.3040G>A MANE Select | NP_000248.2:p.Glu1014Lys |