Linked Data
ClinVar Variation Id:
751103
ClinVar RCV Id:
RCV000928129
dbSNP Id:
rs1034865237
gnomAD v2:
16-2034309-G-A
gnomAD v3:
16-1984308-G-A
gnomAD v4:
16-1984308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984308G>A , CM000678.2:g.1984308G>A | GRCh38 |
| NC_000016.9:g.2034309G>A , CM000678.1:g.2034309G>A | GRCh37 |
| NC_000016.8:g.1974310G>A | NCBI36 |
| NG_016288.1:g.5160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248114.7:c.90G>A MANE Select | ENSP00000248114.6:p.Leu30= | |
| ENST00000248114.6:c.90G>A | ENSP00000248114.6:p.Leu30= | |
| ENST00000561710.1:c.51G>A | ENSP00000456189.1:p.Leu17= | |
| ENST00000569451.1:c.90G>A | ENSP00000456432.1:p.Leu30= | |
| NM_005262.2:c.90G>A | NP_005253.3:p.Leu30= | |
| NM_005262.3:c.90G>A MANE Select | NP_005253.3:p.Leu30= |