Linked Data
ClinVar Variation Id:
1937637
ClinVar RCV Id:
RCV002653365
dbSNP Id:
rs1834914924
gnomAD v3:
10-26697835-G-A
gnomAD v4:
10-26697835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26697835G>A , CM000672.2:g.26697835G>A | GRCh38 |
| NC_000010.10:g.26986764G>A , CM000672.1:g.26986764G>A | GRCh37 |
| NC_000010.9:g.27026770G>A | NCBI36 |
| NG_008972.1:g.5170G>A | |
| NG_008972.2:g.5170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.124G>A MANE Select | ENSP00000365388.5:p.Ala42Thr | |
| ENST00000376215.9:c.124G>A | ENSP00000365388.5:p.Ala42Thr | |
| NM_014317.3:c.124G>A | NP_055132.2:p.Ala42Thr | |
| XR_428636.2:n.412G>A | ||
| XR_930486.1:n.412G>A | ||
| NM_001321978.1:c.124G>A | NP_001308907.1:p.Ala42Thr | |
| NM_001321979.1:c.-470G>A | NP_001308908.1:n.-470G>A | |
| NM_014317.4:c.124G>A | NP_055132.2:p.Ala42Thr | |
| XM_024447922.1:c.124G>A | XP_024303690.1:p.Ala42Thr | |
| XR_428636.4:n.412G>A | ||
| NM_014317.5:c.124G>A MANE Select | NP_055132.2:p.Ala42Thr | |
| NM_001321978.2:c.124G>A | NP_001308907.1:p.Ala42Thr | |
| NM_001321979.2:c.-470G>A | NP_001308908.1:n.-470G>A |