Linked Data
ClinVar Variation Id:
2802471
ClinVar RCV Id:
RCV003741602
dbSNP Id:
rs770181064
ExAC:
11:118039429 G / A
gnomAD v2:
11-118039429-G-A
gnomAD v4:
11-118168714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168714G>A , CM000673.2:g.118168714G>A | GRCh38 |
| NC_000011.9:g.118039429G>A , CM000673.1:g.118039429G>A | GRCh37 |
| NC_000011.8:g.117544639G>A | NCBI36 |
| NG_042217.1:g.12909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.108C>T MANE Select | ENSP00000278947.5:p.Ala36= | |
| ENST00000658882.1:c.212C>T | ENSP00000499572.1:p.Pro71Leu | |
| ENST00000665446.1:n.344C>T | ||
| ENST00000669850.1:n.350C>T | ||
| ENST00000278947.5:c.108C>T | ENSP00000278947.5:p.Ala36= | |
| NM_004588.4:c.108C>T | NP_004579.1:p.Ala36= | |
| NM_004588.5:c.108C>T MANE Select | NP_004579.1:p.Ala36= |