Linked Data
ClinVar Variation Id:
946399
ClinVar RCV Id:
RCV001217261
dbSNP Id:
rs575013686
ExAC:
14:23893262 G / C
gnomAD v2:
14-23893262-G-C
gnomAD v3:
14-23424053-G-C
gnomAD v4:
14-23424053-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424053G>C , CM000676.2:g.23424053G>C | GRCh38 |
| NC_000014.8:g.23893262G>C , CM000676.1:g.23893262G>C | GRCh37 |
| NC_000014.7:g.22963102G>C | NCBI36 |
| NG_007884.1:g.16609C>G , LRG_384:g.16609C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2776C>G MANE Select | ENSP00000347507.3:p.Leu926Val | |
| ENST00000355349.3:c.2776C>G | ENSP00000347507.3:p.Leu926Val | |
| NM_000257.3:c.2776C>G | NP_000248.2:p.Leu926Val | |
| XR_245686.3:n.2882C>G | ||
| XM_017021340.1:c.2776C>G | XP_016876829.1:p.Leu926Val | |
| NM_000257.4:c.2776C>G MANE Select | NP_000248.2:p.Leu926Val |