Linked Data
ClinVar Variation Id:
703986
dbSNP Id:
rs116164480
ExAC:
20:61048460 A / G
gnomAD v2:
20-61048460-A-G
gnomAD v3:
20-62473404-A-G
gnomAD v4:
20-62473404-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62473404A>G , CM000682.2:g.62473404A>G | GRCh38 |
| NC_000020.10:g.61048460A>G , CM000682.1:g.61048460A>G | GRCh37 |
| NC_000020.9:g.60481855A>G | NCBI36 |
| NG_046963.1:g.7567T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252997.3:c.698T>C MANE Select | ENSP00000252997.2:p.Leu233Pro | |
| ENST00000252997.2:c.698T>C | ENSP00000252997.2:p.Leu233Pro | |
| NM_080473.4:c.698T>C | NP_536721.1:p.Leu233Pro | |
| XM_006723699.2:c.698T>C | XP_006723762.1:p.Leu233Pro | |
| XM_006723699.3:c.698T>C | XP_006723762.1:p.Leu233Pro | |
| NM_080473.5:c.698T>C MANE Select | NP_536721.1:p.Leu233Pro |