Linked Data
ClinVar Variation Id:
214614
dbSNP Id:
rs200686732
ExAC:
2:44223080 C / T
gnomAD v2:
2-44223080-C-T
gnomAD v3:
2-43995941-C-T
gnomAD v4:
2-43995941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43995941C>T , CM000664.2:g.43995941C>T | GRCh38 |
| NC_000002.11:g.44223080C>T , CM000664.1:g.44223080C>T | GRCh37 |
| NC_000002.10:g.44076584C>T | NCBI36 |
| NG_008247.1:g.5065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.7G>A | ENSP00000386562.2:p.Ala3Thr | |
| ENST00000409946.6:c.7G>A | ENSP00000386234.1:p.Ala3Thr | |
| ENST00000447246.2:c.7G>A | ENSP00000403637.2:p.Ala3Thr | |
| ENST00000681961.1:n.27G>A | ||
| ENST00000682104.1:c.23+199G>A | ENSP00000507716.1:n.23+199G>A | |
| ENST00000682303.1:c.7G>A | ENSP00000508325.1:p.Ala3Thr | |
| ENST00000682308.1:c.7G>A | ENSP00000507056.1:p.Ala3Thr | |
| ENST00000682480.1:c.7G>A | ENSP00000508344.1:p.Ala3Thr | |
| ENST00000682546.1:c.7G>A | ENSP00000508188.1:p.Ala3Thr | |
| ENST00000682585.1:c.7G>A | ENSP00000506885.1:p.Ala3Thr | |
| ENST00000682595.1:n.22G>A | ||
| ENST00000682779.1:c.7G>A | ENSP00000507947.1:p.Ala3Thr | |
| ENST00000682885.1:c.7G>A | ENSP00000508036.1:p.Ala3Thr | |
| ENST00000683072.1:n.22G>A | ||
| ENST00000683082.1:n.25G>A | ||
| ENST00000683125.1:c.7G>A | ENSP00000507939.1:p.Ala3Thr | |
| ENST00000683213.1:c.7G>A | ENSP00000507751.1:p.Ala3Thr | |
| ENST00000683220.1:c.7G>A | ENSP00000507151.1:p.Ala3Thr | |
| ENST00000683329.1:n.46G>A | ||
| ENST00000683346.1:c.7G>A | ENSP00000507458.1:p.Ala3Thr | |
| ENST00000683459.1:n.27G>A | ||
| ENST00000683590.1:c.7G>A | ENSP00000506820.1:p.Ala3Thr | |
| ENST00000683623.1:c.7G>A | ENSP00000507702.1:p.Ala3Thr | |
| ENST00000683796.1:c.7G>A | ENSP00000508221.1:p.Ala3Thr | |
| ENST00000683833.1:c.7G>A | ENSP00000506852.1:p.Ala3Thr | |
| ENST00000683989.1:c.7G>A | ENSP00000507510.1:p.Ala3Thr | |
| ENST00000683994.1:c.7G>A | ENSP00000507181.1:p.Ala3Thr | |
| ENST00000684290.1:c.7G>A | ENSP00000507243.1:p.Ala3Thr | |
| ENST00000684306.1:c.7G>A | ENSP00000508384.1:p.Ala3Thr | |
| ENST00000684329.1:n.49G>A | ||
| ENST00000684341.1:n.27G>A | ||
| ENST00000684383.1:c.7G>A | ENSP00000506863.1:p.Ala3Thr | |
| ENST00000684619.1:c.7G>A | ENSP00000508088.1:p.Ala3Thr | |
| ENST00000684691.1:n.49G>A | ||
| ENST00000260665.12:c.7G>A MANE Select | ENSP00000260665.7:p.Ala3Thr | |
| ENST00000260665.11:c.7G>A | ENSP00000260665.7:p.Ala3Thr | |
| ENST00000409659.5:c.7G>A | ENSP00000386562.1:p.Ala3Thr | |
| ENST00000409946.5:c.7G>A | ENSP00000386234.1:p.Ala3Thr | |
| ENST00000447246.1:c.-97G>A | ENSP00000403637.1:n.-97G>A | |
| NM_133259.3:c.7G>A | NP_573566.2:p.Ala3Thr | |
| XM_006711915.2:c.-97G>A | XP_006711978.1:n.-97G>A | |
| XM_006711916.2:c.7G>A | XP_006711979.1:p.Ala3Thr | |
| XM_011532473.1:c.7G>A | XP_011530775.1:p.Ala3Thr | |
| XM_011532474.1:c.7G>A | XP_011530776.1:p.Ala3Thr | |
| XM_006711916.3:c.7G>A | XP_006711979.1:p.Ala3Thr | |
| XM_017003117.1:c.-97G>A | XP_016858606.1:n.-97G>A | |
| XR_002958896.1:n.49G>A | ||
| NM_133259.4:c.7G>A MANE Select | NP_573566.2:p.Ala3Thr |