Linked Data
dbSNP Id:
rs1280722004
gnomAD v3:
7-117614670-C-T
gnomAD v4:
7-117614670-C-T
COSMIC:
COSM4431233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614670C>T , CM000669.2:g.117614670C>T | GRCh38 |
| NC_000007.13:g.117254724C>T , CM000669.1:g.117254724C>T | GRCh37 |
| NC_000007.12:g.117041960C>T | NCBI36 |
| NG_016465.4:g.153887C>T , LRG_663:g.153887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3425C>T | ENSP00000497673.2:p.Thr1142Ile | |
| ENST00000647978.2:c.*3139C>T | ENSP00000497658.1:n.*3139C>T | |
| ENST00000649781.2:c.3242C>T | ENSP00000497203.1:p.Thr1081Ile | |
| ENST00000685018.2:c.3425C>T | ENSP00000510194.2:p.Thr1142Ile | |
| ENST00000687278.2:c.3425C>T | ENSP00000509593.2:p.Thr1142Ile | |
| ENST00000699585.1:c.3425C>T | ENSP00000514456.1:p.Thr1142Ile | |
| ENST00000699598.1:c.3425C>T | ENSP00000514467.1:p.Thr1142Ile | |
| ENST00000699599.1:c.3425C>T | ENSP00000514468.1:p.Thr1142Ile | |
| ENST00000699600.1:c.3425C>T | ENSP00000514469.1:p.Thr1142Ile | |
| ENST00000699601.1:c.*1800C>T | ENSP00000514470.1:n.*1800C>T | |
| ENST00000699602.1:c.3419C>T | ENSP00000514471.1:p.Thr1140Ile | |
| ENST00000699604.1:c.*3249C>T | ENSP00000514472.1:n.*3249C>T | |
| ENST00000699605.1:c.2999C>T | ENSP00000514473.1:p.Thr1000Ile | |
| ENST00000685018.1:c.173C>T | ENSP00000510194.1:p.Thr58Ile | |
| ENST00000687278.1:c.1016C>T | ENSP00000509593.1:p.Thr339Ile | |
| ENST00000689011.1:c.7C>T | ||
| ENST00000003084.11:c.3425C>T MANE Select | ENSP00000003084.6:p.Thr1142Ile | |
| ENST00000647720.1:c.1075C>T | ||
| ENST00000648260.1:c.2207C>T | ENSP00000497957.1:p.Thr736Ile | |
| ENST00000649406.1:c.3242C>T | ENSP00000497965.1:p.Thr1081Ile | |
| ENST00000649781.1:c.3242C>T | ENSP00000497203.1:p.Thr1081Ile | |
| ENST00000003084.10:c.3425C>T | ENSP00000003084.6:p.Thr1142Ile | |
| ENST00000426809.5:c.3335C>T | ENSP00000389119.1:p.Thr1112Ile | |
| ENST00000468795.1:c.250C>T | ||
| NM_000492.3:c.3425C>T , LRG_663t1:c.3425C>T | NP_000483.3:p.Thr1142Ile | |
| XM_011515751.1:c.3515C>T | XP_011514053.1:p.Thr1172Ile | |
| XM_011515752.1:c.3515C>T | XP_011514054.1:p.Thr1172Ile | |
| XM_011515753.1:c.3182C>T | XP_011514055.1:p.Thr1061Ile | |
| XM_011515754.1:c.3182C>T | XP_011514056.1:p.Thr1061Ile | |
| NM_000492.4:c.3425C>T MANE Select | NP_000483.3:p.Thr1142Ile |