Linked Data
ClinVar Variation Id:
376751
ClinVar RCV Id:
RCV000439020
dbSNP Id:
rs1057520045
gnomAD v4:
X-101375164-C-T
PubMed:
PMID:10352268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101375164C>T , CM000685.2:g.101375164C>T | GRCh38 |
| NC_000023.10:g.100630152C>T , CM000685.1:g.100630152C>T | GRCh37 |
| NC_000023.9:g.100516808C>T | NCBI36 |
| NG_009616.1:g.16061G>A , LRG_128:g.16061G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478995.2:n.281G>A | ||
| ENST00000488970.2:n.281G>A | ||
| ENST00000695614.1:c.121G>A | ENSP00000512053.1:p.Glu41Lys | |
| ENST00000695615.1:c.121G>A | ENSP00000512054.1:p.Glu41Lys | |
| ENST00000695616.1:c.121G>A | ENSP00000512055.1:p.Glu41Lys | |
| ENST00000695617.1:c.121G>A | ENSP00000512056.1:p.Glu41Lys | |
| ENST00000695618.1:c.121G>A | ENSP00000512058.1:p.Glu41Lys | |
| ENST00000695619.1:c.121G>A | ENSP00000512059.1:p.Glu41Lys | |
| ENST00000695620.1:c.121G>A | ENSP00000512060.1:p.Glu41Lys | |
| ENST00000695621.1:c.121G>A | ENSP00000512061.1:p.Glu41Lys | |
| ENST00000695622.1:c.121G>A | ENSP00000512062.1:p.Glu41Lys | |
| ENST00000695623.1:c.121G>A | ENSP00000512063.1:p.Glu41Lys | |
| ENST00000695625.1:c.121G>A | ENSP00000512064.1:p.Glu41Lys | |
| ENST00000695633.1:n.434G>A | ||
| ENST00000695643.1:c.121G>A | ENSP00000512078.1:p.Glu41Lys | |
| ENST00000703407.1:c.121G>A | ENSP00000512057.1:p.Glu41Lys | |
| ENST00000308731.8:c.121G>A MANE Select | ENSP00000308176.8:p.Glu41Lys | |
| ENST00000308731.7:c.121G>A | ENSP00000308176.7:p.Glu41Lys | |
| ENST00000372880.5:c.121G>A | ENSP00000361971.1:p.Glu41Lys | |
| ENST00000464567.1:n.238G>A | ||
| ENST00000618050.4:c.121G>A | ENSP00000479125.1:p.Glu41Lys | |
| ENST00000621635.4:c.223G>A | ENSP00000483570.1:p.Glu75Lys | |
| NM_000061.2:c.121G>A , LRG_128t1:c.121G>A | NP_000052.1:p.Glu41Lys | |
| NM_001287344.1:c.223G>A | NP_001274273.1:p.Glu75Lys | |
| NM_001287345.1:c.121G>A | NP_001274274.1:p.Glu41Lys | |
| NM_000061.3:c.121G>A MANE Select | NP_000052.1:p.Glu41Lys | |
| NM_001287344.2:c.223G>A | NP_001274273.1:p.Glu75Lys | |
| NM_001287345.2:c.121G>A | NP_001274274.1:p.Glu41Lys |