Linked Data
ClinVar Variation Id:
598580
dbSNP Id:
rs759202870
gnomAD v3:
7-117627641-A-T
gnomAD v4:
7-117627641-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627641A>T , CM000669.2:g.117627641A>T | GRCh38 |
| NC_000007.13:g.117267695A>T , CM000669.1:g.117267695A>T | GRCh37 |
| NC_000007.12:g.117054931A>T | NCBI36 |
| NG_016465.4:g.166858A>T , LRG_663:g.166858A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+71A>T | ENSP00000497673.2:n.3517+71A>T | |
| ENST00000647978.2:c.*3302A>T | ENSP00000497658.1:n.*3302A>T | |
| ENST00000649781.2:c.3405A>T | ENSP00000497203.1:p.Ser1135= | |
| ENST00000685018.2:c.3588A>T | ENSP00000510194.2:p.Ser1196= | |
| ENST00000687278.2:c.*241A>T | ENSP00000509593.2:n.*241A>T | |
| ENST00000699585.1:c.3517+71A>T | ENSP00000514456.1:n.3517+71A>T | |
| ENST00000699598.1:c.3588A>T | ENSP00000514467.1:p.Ser1196= | |
| ENST00000699599.1:c.3588A>T | ENSP00000514468.1:p.Ser1196= | |
| ENST00000699600.1:c.*249A>T | ENSP00000514469.1:n.*249A>T | |
| ENST00000699601.1:c.*1963A>T | ENSP00000514470.1:n.*1963A>T | |
| ENST00000699602.1:c.3582A>T | ENSP00000514471.1:p.Ser1194= | |
| ENST00000699604.1:c.*3412A>T | ENSP00000514472.1:n.*3412A>T | |
| ENST00000699605.1:c.3162A>T | ENSP00000514473.1:p.Ser1054= | |
| ENST00000685018.1:c.336A>T | ENSP00000510194.1:p.Ser112= | |
| ENST00000687278.1:c.1375A>T | ENSP00000509593.1:n.1375A>T | |
| ENST00000689011.1:c.170A>T | ||
| ENST00000003084.11:c.3588A>T MANE Select | ENSP00000003084.6:p.Ser1196= | |
| ENST00000647720.1:c.1167+71A>T | ||
| ENST00000648260.1:c.2370A>T | ENSP00000497957.1:p.Ser790= | |
| ENST00000649406.1:c.3405A>T | ENSP00000497965.1:p.Ser1135= | |
| ENST00000649781.1:c.3405A>T | ENSP00000497203.1:p.Ser1135= | |
| ENST00000003084.10:c.3588A>T | ENSP00000003084.6:p.Ser1196= | |
| ENST00000426809.5:c.3498A>T | ENSP00000389119.1:p.Ser1166= | |
| ENST00000468795.1:c.413A>T | ||
| NM_000492.3:c.3588A>T , LRG_663t1:c.3588A>T | NP_000483.3:p.Ser1196= | |
| XM_011515751.1:c.3678A>T | XP_011514053.1:p.Ser1226= | |
| XM_011515752.1:c.3678A>T | XP_011514054.1:p.Ser1226= | |
| XM_011515753.1:c.3345A>T | XP_011514055.1:p.Ser1115= | |
| XM_011515754.1:c.3345A>T | XP_011514056.1:p.Ser1115= | |
| NM_000492.4:c.3588A>T MANE Select | NP_000483.3:p.Ser1196= |