Linked Data
ClinVar Variation Id:
2302334
ClinVar RCV Id:
RCV004148463
dbSNP Id:
rs1329550463
gnomAD v2:
20-35690594-C-T
gnomAD v3:
20-37062191-C-T
gnomAD v4:
20-37062191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37062191C>T , CM000682.2:g.37062191C>T | GRCh38 |
| NC_000020.10:g.35690594C>T , CM000682.1:g.35690594C>T | GRCh37 |
| NC_000020.9:g.35124008C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373664.8:c.976G>A MANE Select | ENSP00000362768.3:p.Ala326Thr | |
| ENST00000344359.7:c.976G>A | ENSP00000343646.3:p.Ala326Thr | |
| ENST00000373664.7:c.976G>A | ENSP00000362768.3:p.Ala326Thr | |
| ENST00000525052.1:c.390G>A | ||
| NM_002895.3:c.976G>A | NP_002886.2:p.Ala326Thr | |
| NM_183404.2:c.976G>A | NP_899662.1:p.Ala326Thr | |
| XM_006723842.1:c.460G>A | XP_006723905.1:p.Ala154Thr | |
| XM_011528955.1:c.976G>A | XP_011527257.1:p.Ala326Thr | |
| XM_011528956.1:c.739G>A | XP_011527258.1:p.Ala247Thr | |
| XM_011528957.1:c.664G>A | XP_011527259.1:p.Ala222Thr | |
| XM_011528958.1:c.976G>A | XP_011527260.1:p.Ala326Thr | |
| XM_011528959.1:c.-444G>A | XP_011527261.1:n.-444G>A | |
| NM_001323281.1:c.-444G>A | NP_001310210.1:n.-444G>A | |
| NM_001323282.1:c.-444G>A | NP_001310211.1:n.-444G>A | |
| NM_002895.4:c.976G>A | NP_002886.2:p.Ala326Thr | |
| NM_183404.3:c.976G>A | NP_899662.1:p.Ala326Thr | |
| XM_006723842.3:c.460G>A | XP_006723905.1:p.Ala154Thr | |
| XM_017027992.1:c.664G>A | XP_016883481.1:p.Ala222Thr | |
| XM_024451956.1:c.1087G>A | XP_024307724.1:p.Ala363Thr | |
| XM_024451957.1:c.1087G>A | XP_024307725.1:p.Ala363Thr | |
| XM_024451958.1:c.1087G>A | XP_024307726.1:p.Ala363Thr | |
| NM_001323281.2:c.-444G>A | NP_001310210.1:n.-444G>A | |
| NM_001323282.2:c.-444G>A | NP_001310211.1:n.-444G>A | |
| NM_002895.5:c.976G>A MANE Select | NP_002886.2:p.Ala326Thr | |
| NM_183404.4:c.976G>A | NP_899662.1:p.Ala326Thr |