Linked Data
ClinVar Variation Id:
2137216
ClinVar RCV Id:
RCV003058345
dbSNP Id:
rs80358281
gnomAD v3:
11-86954979-C-T
gnomAD v4:
11-86954979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954979C>T , CM000673.2:g.86954979C>T | GRCh38 |
| NC_000011.9:g.86666021C>T , CM000673.1:g.86666021C>T | GRCh37 |
| NC_000011.8:g.86343669C>T | NCBI36 |
| NG_011752.1:g.5413G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.107G>A MANE Select | ENSP00000434034.1:p.Gly36Asp | |
| ENST00000531380.1:c.107G>A | ENSP00000434034.1:p.Gly36Asp | |
| NM_012193.3:c.107G>A | NP_036325.2:p.Gly36Asp | |
| NM_012193.4:c.107G>A MANE Select | NP_036325.2:p.Gly36Asp |