Linked Data
ClinVar Variation Id:
195464
dbSNP Id:
rs1800118
ExAC:
7:117251780 A / T
gnomAD v2:
7-117251780-A-T
gnomAD v3:
7-117611726-A-T
gnomAD v4:
7-117611726-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611726A>T , CM000669.2:g.117611726A>T | GRCh38 |
| NC_000007.13:g.117251780A>T , CM000669.1:g.117251780A>T | GRCh37 |
| NC_000007.12:g.117039016A>T | NCBI36 |
| NG_016465.4:g.150943A>T , LRG_663:g.150943A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3285A>T | ENSP00000497673.2:p.Thr1095= | |
| ENST00000647978.2:c.*2999A>T | ENSP00000497658.1:n.*2999A>T | |
| ENST00000649781.2:c.3102A>T | ENSP00000497203.1:p.Thr1034= | |
| ENST00000685018.2:c.3285A>T | ENSP00000510194.2:p.Thr1095= | |
| ENST00000687278.2:c.3285A>T | ENSP00000509593.2:p.Thr1095= | |
| ENST00000699585.1:c.3285A>T | ENSP00000514456.1:p.Thr1095= | |
| ENST00000699598.1:c.3285A>T | ENSP00000514467.1:p.Thr1095= | |
| ENST00000699599.1:c.3285A>T | ENSP00000514468.1:p.Thr1095= | |
| ENST00000699600.1:c.3285A>T | ENSP00000514469.1:p.Thr1095= | |
| ENST00000699601.1:c.*1585A>T | ENSP00000514470.1:n.*1585A>T | |
| ENST00000699602.1:c.3285A>T | ENSP00000514471.1:p.Thr1095= | |
| ENST00000699604.1:c.*3109A>T | ENSP00000514472.1:n.*3109A>T | |
| ENST00000699605.1:c.2859A>T | ENSP00000514473.1:p.Thr953= | |
| ENST00000685018.1:c.33A>T | ENSP00000510194.1:p.Thr11= | |
| ENST00000687278.1:c.876A>T | ENSP00000509593.1:p.Thr292= | |
| ENST00000003084.11:c.3285A>T MANE Select | ENSP00000003084.6:p.Thr1095= | |
| ENST00000647720.1:c.935A>T | ||
| ENST00000648260.1:c.2067A>T | ENSP00000497957.1:p.Thr689= | |
| ENST00000649406.1:c.3102A>T | ENSP00000497965.1:p.Thr1034= | |
| ENST00000649781.1:c.3102A>T | ENSP00000497203.1:p.Thr1034= | |
| ENST00000003084.10:c.3285A>T | ENSP00000003084.6:p.Thr1095= | |
| ENST00000426809.5:c.3195A>T | ENSP00000389119.1:p.Thr1065= | |
| ENST00000468795.1:c.110A>T | ||
| NM_000492.3:c.3285A>T , LRG_663t1:c.3285A>T | NP_000483.3:p.Thr1095= | |
| XM_011515751.1:c.3375A>T | XP_011514053.1:p.Thr1125= | |
| XM_011515752.1:c.3375A>T | XP_011514054.1:p.Thr1125= | |
| XM_011515753.1:c.3042A>T | XP_011514055.1:p.Thr1014= | |
| XM_011515754.1:c.3042A>T | XP_011514056.1:p.Thr1014= | |
| NM_000492.4:c.3285A>T MANE Select | NP_000483.3:p.Thr1095= |