Linked Data
ClinVar Variation Id:
42819
ClinVar RCV Id:
RCV000035695
RCV000251966
RCV000309106
RCV000366029
RCV000343883
RCV000390194
RCV000758040
RCV001094198
RCV001357299
RCV003320041
dbSNP Id:
rs735712
ExAC:
14:23899060 G / A
gnomAD v2:
14-23899060-G-A
gnomAD v3:
14-23429851-G-A
gnomAD v4:
14-23429851-G-A
PubMed:
PMID:29300372
ERepo:
CA010125/MONDO:0004994/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429851G>A , CM000676.2:g.23429851G>A | GRCh38 |
| NC_000014.8:g.23899060G>A , CM000676.1:g.23899060G>A | GRCh37 |
| NC_000014.7:g.22968900G>A | NCBI36 |
| NG_007884.1:g.10811C>T , LRG_384:g.10811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1062C>T MANE Select | ENSP00000347507.3:p.Gly354= | |
| ENST00000355349.3:c.1062C>T | ENSP00000347507.3:p.Gly354= | |
| NM_000257.3:c.1062C>T | NP_000248.2:p.Gly354= | |
| XR_245686.3:n.1168C>T | ||
| XM_017021340.1:c.1062C>T | XP_016876829.1:p.Gly354= | |
| NM_000257.4:c.1062C>T MANE Select | NP_000248.2:p.Gly354= |