Linked Data
ClinVar Variation Id:
1011193
dbSNP Id:
rs768312155
ExAC:
14:23892827 G / A
gnomAD v2:
14-23892827-G-A
gnomAD v3:
14-23423618-G-A
gnomAD v4:
14-23423618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423618G>A , CM000676.2:g.23423618G>A | GRCh38 |
| NC_000014.8:g.23892827G>A , CM000676.1:g.23892827G>A | GRCh37 |
| NC_000014.7:g.22962667G>A | NCBI36 |
| NG_007884.1:g.17044C>T , LRG_384:g.17044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3028C>T MANE Select | ENSP00000347507.3:p.Leu1010Phe | |
| ENST00000355349.3:c.3028C>T | ENSP00000347507.3:p.Leu1010Phe | |
| NM_000257.3:c.3028C>T | NP_000248.2:p.Leu1010Phe | |
| XR_245686.3:n.3134C>T | ||
| XM_017021340.1:c.3028C>T | XP_016876829.1:p.Leu1010Phe | |
| NM_000257.4:c.3028C>T MANE Select | NP_000248.2:p.Leu1010Phe |