Linked Data
ClinVar Variation Id:
3003450
ClinVar RCV Id:
RCV003868065
dbSNP Id:
rs995048954
gnomAD v3:
11-819736-G-A
gnomAD v4:
11-819736-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.819736G>A , CM000673.2:g.819736G>A | GRCh38 |
| NC_000011.9:g.819736G>A , CM000673.1:g.819736G>A | GRCh37 |
| NC_000011.8:g.809736G>A | NCBI36 |
| NG_023394.1:g.5836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.18G>A MANE Select | ENSP00000337701.4:p.Lys6= | |
| ENST00000336615.8:c.18G>A | ENSP00000337701.4:p.Lys6= | |
| NM_020376.3:c.18G>A | NP_065109.1:p.Lys6= | |
| XM_006718265.2:c.18G>A | XP_006718328.1:p.Lys6= | |
| XM_006718266.2:c.18G>A | XP_006718329.1:p.Lys6= | |
| XM_006718265.3:c.18G>A | XP_006718328.1:p.Lys6= | |
| XM_006718266.3:c.18G>A | XP_006718329.1:p.Lys6= | |
| XM_017018028.1:c.18G>A | XP_016873517.1:p.Lys6= | |
| XM_024448618.1:c.18G>A | XP_024304386.1:p.Lys6= | |
| NM_020376.4:c.18G>A MANE Select | NP_065109.1:p.Lys6= |