Linked Data
ClinVar Variation Id:
2348379
ClinVar RCV Id:
RCV004187059
dbSNP Id:
rs143319883
gnomAD v3:
1-144423099-C-T
gnomAD v4:
1-144423099-C-T
MyVariant Identifiers:
chr1:g.144423099C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.144423099C>T , CM000663.2:g.144423099C>T | GRCh38 |
| NC_000001.9:g.146861178G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577412.6:c.1927G>A | ENSP00000462600.1:p.Ala643Thr | |
| ENST00000581897.7:c.1927G>A MANE Select | ENSP00000463178.1:p.Ala643Thr | |
| ENST00000614785.5:c.1816G>A | ENSP00000479429.2:p.Ala606Thr | |
| ENST00000488031.6:c.1927G>A | ENSP00000481835.1:p.Ala643Thr | |
| ENST00000577412.5:c.1927G>A | ENSP00000462600.1:p.Ala643Thr | |
| ENST00000581897.6:c.1927G>A | ENSP00000463178.1:p.Ala643Thr | |
| NM_001170755.2:c.1927G>A | NP_001164226.1:p.Ala643Thr | |
| NM_173638.4:c.1927G>A | NP_775909.2:p.Ala643Thr | |
| XM_005245096.3:c.1927G>A | XP_005245153.1:p.Ala643Thr | |
| NM_001170755.3:c.1927G>A | NP_001164226.1:p.Ala643Thr | |
| NM_001385373.1:c.1927G>A | NP_001372302.1:p.Ala643Thr | |
| NM_001385374.1:c.1927G>A | NP_001372303.1:p.Ala643Thr | |
| NM_001385375.1:c.1927G>A | NP_001372304.1:p.Ala643Thr | |
| NM_001385376.1:c.1927G>A | NP_001372305.1:p.Ala643Thr | |
| NM_001385377.1:c.1927G>A | NP_001372306.1:p.Ala643Thr | |
| NM_001385378.1:c.1927G>A | NP_001372307.1:p.Ala643Thr | |
| NM_001385403.1:c.1927G>A | NP_001372332.1:p.Ala643Thr | |
| NM_001385404.1:c.1927G>A | NP_001372333.1:p.Ala643Thr | |
| NM_001385405.1:c.1927G>A | NP_001372334.1:p.Ala643Thr | |
| NM_001385406.1:c.1927G>A | NP_001372335.1:p.Ala643Thr | |
| NM_001385407.1:c.1927G>A | NP_001372336.1:p.Ala643Thr | |
| NM_001385408.1:c.1927G>A MANE Select | NP_001372337.1:p.Ala643Thr | |
| NM_001385409.1:c.1927G>A | NP_001372338.1:p.Ala643Thr | |
| NM_001385410.1:c.1927G>A | NP_001372339.1:p.Ala643Thr | |
| NM_001385411.1:c.1927G>A | NP_001372340.1:p.Ala643Thr | |
| NM_001385412.1:c.1927G>A | NP_001372341.1:p.Ala643Thr | |
| NM_001385413.1:c.1927G>A | NP_001372342.1:p.Ala643Thr | |
| NM_001385414.1:c.1927G>A | NP_001372343.1:p.Ala643Thr | |
| NM_001385415.1:c.1927G>A | NP_001372344.1:p.Ala643Thr | |
| NM_001385416.1:c.1927G>A | NP_001372345.1:p.Ala643Thr | |
| NM_001385417.1:c.1927G>A | NP_001372346.1:p.Ala643Thr | |
| NM_001385418.1:c.1927G>A | NP_001372347.1:p.Ala643Thr | |
| NM_001385419.1:c.1927G>A | NP_001372348.1:p.Ala643Thr | |
| NM_001385420.1:c.1927G>A | NP_001372349.1:p.Ala643Thr | |
| NM_001385421.1:c.1927G>A | NP_001372350.1:p.Ala643Thr | |
| NM_001385422.1:c.1927G>A | NP_001372351.1:p.Ala643Thr | |
| NM_001385423.1:c.1927G>A | NP_001372352.1:p.Ala643Thr | |
| NM_001385424.1:c.1927G>A | NP_001372353.1:p.Ala643Thr | |
| NM_001385425.1:c.1927G>A | NP_001372354.1:p.Ala643Thr | |
| NM_001385426.1:c.1927G>A | NP_001372355.1:p.Ala643Thr | |
| NM_001385427.1:c.1927G>A | NP_001372356.1:p.Ala643Thr | |
| NM_001385428.1:c.1927G>A | NP_001372357.1:p.Ala643Thr | |
| NM_001385429.1:c.1927G>A | NP_001372358.1:p.Ala643Thr | |
| NM_001385430.1:c.1927G>A | NP_001372359.1:p.Ala643Thr | |
| NM_001385431.1:c.1927G>A | NP_001372360.1:p.Ala643Thr | |
| NM_001385432.1:c.1927G>A | NP_001372361.1:p.Ala643Thr | |
| NM_001385433.1:c.1927G>A | NP_001372362.1:p.Ala643Thr | |
| NM_001385434.1:c.1927G>A | NP_001372363.1:p.Ala643Thr | |
| NM_001385435.1:c.1927G>A | NP_001372364.1:p.Ala643Thr | |
| NM_001385436.1:c.1927G>A | NP_001372365.1:p.Ala643Thr | |
| NM_001385437.1:c.1927G>A | NP_001372366.1:p.Ala643Thr | |
| NM_001385438.1:c.1927G>A | NP_001372367.1:p.Ala643Thr | |
| NM_001385439.1:c.1927G>A | NP_001372368.1:p.Ala643Thr | |
| NM_001385440.1:c.1927G>A | NP_001372369.1:p.Ala643Thr | |
| NM_001385441.1:c.1927G>A | NP_001372370.1:p.Ala643Thr | |
| NM_001385442.1:c.1816G>A | NP_001372371.1:p.Ala606Thr | |
| NM_001385443.1:c.1816G>A | NP_001372372.1:p.Ala606Thr | |
| NM_001385444.1:c.1816G>A | NP_001372373.1:p.Ala606Thr | |
| NM_001385445.1:c.1816G>A | NP_001372374.1:p.Ala606Thr | |
| NM_001385446.1:c.1702G>A | NP_001372375.1:p.Ala568Thr | |
| NM_001385447.1:c.1702G>A | NP_001372376.1:p.Ala568Thr | |
| NM_001385448.1:c.2011G>A | NP_001372377.1:p.Ala671Thr | |
| NM_173638.5:c.1927G>A | NP_775909.2:p.Ala643Thr |