Linked Data
ClinVar Variation Id:
306303
ClinVar RCV Id:
RCV000371374
dbSNP Id:
rs886048710
gnomAD v3:
11-823848-C-A
gnomAD v4:
11-823848-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.823848C>A , CM000673.2:g.823848C>A | GRCh38 |
| NC_000011.9:g.823848C>A , CM000673.1:g.823848C>A | GRCh37 |
| NC_000011.8:g.813848C>A | NCBI36 |
| NG_023394.1:g.9948C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.912C>A MANE Select | ENSP00000337701.4:p.Leu304= | |
| ENST00000336615.8:c.912C>A | ENSP00000337701.4:p.Leu304= | |
| ENST00000525250.5:n.1624C>A | ||
| ENST00000526083.1:n.201C>A | ||
| ENST00000529255.1:n.200C>A | ||
| ENST00000617551.1:c.-233C>A | ENSP00000481602.1:n.-233C>A | |
| NM_020376.3:c.912C>A | NP_065109.1:p.Leu304= | |
| XM_006718265.2:c.912C>A | XP_006718328.1:p.Leu304= | |
| XM_006718266.2:c.912C>A | XP_006718329.1:p.Leu304= | |
| XM_006718265.3:c.912C>A | XP_006718328.1:p.Leu304= | |
| XM_006718266.3:c.912C>A | XP_006718329.1:p.Leu304= | |
| XM_017018028.1:c.912C>A | XP_016873517.1:p.Leu304= | |
| XM_024448618.1:c.912C>A | XP_024304386.1:p.Leu304= | |
| NM_020376.4:c.912C>A MANE Select | NP_065109.1:p.Leu304= |