Linked Data
ClinVar Variation Id:
2796539
ClinVar RCV Id:
RCV003598410
dbSNP Id:
rs1395208337
gnomAD v2:
1-24175165-T-C
gnomAD v4:
1-23848675-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848675T>C , CM000663.2:g.23848675T>C | GRCh38 |
| NC_000001.10:g.24175165T>C , CM000663.1:g.24175165T>C | GRCh37 |
| NC_000001.9:g.24047752T>C | NCBI36 |
| NG_013346.1:g.24695A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1134A>G MANE Select | ENSP00000363603.3:p.Gln378= | |
| ENST00000374479.3:c.1134A>G | ENSP00000363603.3:p.Gln378= | |
| NM_000147.4:c.1134A>G | NP_000138.2:p.Gln378= | |
| XM_005245821.1:c.759A>G | XP_005245878.1:p.Gln253= | |
| XM_011541167.1:c.501A>G | XP_011539469.1:p.Gln167= | |
| XM_005245821.3:c.759A>G | XP_005245878.1:p.Gln253= | |
| XM_011541167.3:c.501A>G | XP_011539469.1:p.Gln167= | |
| XM_017000905.2:c.831A>G | XP_016856394.1:p.Gln277= | |
| NM_000147.5:c.1134A>G MANE Select | NP_000138.2:p.Gln378= | |
| NR_174379.1:n.1312A>G | ||
| NR_174380.1:n.1361A>G | ||
| NR_174381.1:n.1200A>G | ||
| NR_174382.1:n.1597A>G |