Linked Data
dbSNP Id:
rs369371090
ExAC:
2:44145460 T / A
gnomAD v2:
2-44145460-T-A
gnomAD v3:
2-43918321-T-A
gnomAD v4:
2-43918321-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918321T>A , CM000664.2:g.43918321T>A | GRCh38 |
| NC_000002.11:g.44145460T>A , CM000664.1:g.44145460T>A | GRCh37 |
| NC_000002.10:g.43998964T>A | NCBI36 |
| NG_008247.1:g.82685A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.526A>T | ||
| ENST00000682295.1:c.238A>T | ENSP00000507499.1:p.Thr80Ser | |
| ENST00000682303.1:c.*2760A>T | ENSP00000508325.1:n.*2760A>T | |
| ENST00000682308.1:c.2974A>T | ENSP00000507056.1:p.Thr992Ser | |
| ENST00000682480.1:c.2974A>T | ENSP00000508344.1:p.Thr992Ser | |
| ENST00000682546.1:c.2971A>T | ENSP00000508188.1:p.Thr991Ser | |
| ENST00000682585.1:c.2974A>T | ENSP00000506885.1:p.Thr992Ser | |
| ENST00000682595.1:n.3558A>T | ||
| ENST00000682607.1:c.1392A>T | ||
| ENST00000682779.1:c.2965A>T | ENSP00000507947.1:p.Thr989Ser | |
| ENST00000682845.1:n.2076A>T | ||
| ENST00000682885.1:c.2929A>T | ENSP00000508036.1:p.Thr977Ser | |
| ENST00000682933.1:n.3048A>T | ||
| ENST00000683072.1:n.3558A>T | ||
| ENST00000683080.1:n.593A>T | ||
| ENST00000683125.1:c.3082A>T | ENSP00000507939.1:p.Thr1028Ser | |
| ENST00000683213.1:c.2977A>T | ENSP00000507751.1:p.Thr993Ser | |
| ENST00000683220.1:c.3004A>T | ENSP00000507151.1:p.Thr1002Ser | |
| ENST00000683236.1:c.304A>T | ENSP00000506891.1:n.304A>T | |
| ENST00000683329.1:n.3777A>T | ||
| ENST00000683346.1:c.*2849A>T | ENSP00000507458.1:n.*2849A>T | |
| ENST00000683409.1:n.1581A>T | ||
| ENST00000683459.1:n.3561A>T | ||
| ENST00000683590.1:c.2897-5763A>T | ENSP00000506820.1:n.2897-5763A>T | |
| ENST00000683623.1:c.2881A>T | ENSP00000507702.1:p.Thr961Ser | |
| ENST00000683645.1:n.3525A>T | ||
| ENST00000683796.1:c.*2846A>T | ENSP00000508221.1:n.*2846A>T | |
| ENST00000683802.1:n.5899A>T | ||
| ENST00000683833.1:c.2965A>T | ENSP00000506852.1:p.Thr989Ser | |
| ENST00000683994.1:c.2974A>T | ENSP00000507181.1:p.Thr992Ser | |
| ENST00000684290.1:c.*510A>T | ENSP00000507243.1:n.*510A>T | |
| ENST00000684306.1:c.*2887A>T | ENSP00000508384.1:n.*2887A>T | |
| ENST00000684341.1:n.2994A>T | ||
| ENST00000684383.1:c.*2612A>T | ENSP00000506863.1:n.*2612A>T | |
| ENST00000684619.1:c.*2846A>T | ENSP00000508088.1:n.*2846A>T | |
| ENST00000684705.1:n.95A>T | ||
| ENST00000684743.1:n.4005A>T | ||
| ENST00000260665.12:c.2974A>T MANE Select | ENSP00000260665.7:p.Thr992Ser | |
| ENST00000260665.11:c.2974A>T | ENSP00000260665.7:p.Thr992Ser | |
| NM_133259.3:c.2974A>T | NP_573566.2:p.Thr992Ser | |
| XM_006711915.2:c.2896A>T | XP_006711978.1:p.Thr966Ser | |
| XM_006711916.2:c.2974A>T | XP_006711979.1:p.Thr992Ser | |
| XM_011532473.1:c.2974A>T | XP_011530775.1:p.Thr992Ser | |
| XM_011532474.1:c.2974A>T | XP_011530776.1:p.Thr992Ser | |
| XM_006711916.3:c.2974A>T | XP_006711979.1:p.Thr992Ser | |
| XM_017003117.1:c.2896A>T | XP_016858606.1:p.Thr966Ser | |
| XR_002958896.1:n.3016A>T | ||
| NM_133259.4:c.2974A>T MANE Select | NP_573566.2:p.Thr992Ser |