Linked Data
ClinVar Variation Id:
181216
ClinVar RCV Id:
RCV000158592
dbSNP Id:
rs730880769
gnomAD v4:
14-23422262-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422262G>T , CM000676.2:g.23422262G>T | GRCh38 |
| NC_000014.8:g.23891471G>T , CM000676.1:g.23891471G>T | GRCh37 |
| NC_000014.7:g.22961311G>T | NCBI36 |
| NG_007884.1:g.18400C>A , LRG_384:g.18400C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3163C>A MANE Select | ENSP00000347507.3:p.Leu1055Met | |
| ENST00000355349.3:c.3163C>A | ENSP00000347507.3:p.Leu1055Met | |
| NM_000257.3:c.3163C>A | NP_000248.2:p.Leu1055Met | |
| XR_245686.3:n.3269C>A | ||
| XM_017021340.1:c.3163C>A | XP_016876829.1:p.Leu1055Met | |
| NM_000257.4:c.3163C>A MANE Select | NP_000248.2:p.Leu1055Met |