Linked Data
ClinVar Variation Id:
1733282
ClinVar RCV Id:
RCV002452266
MyVariant Identifiers:
chr7:g.117267725A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627671A>T , CM000669.2:g.117627671A>T | GRCh38 |
| NC_000007.13:g.117267725A>T , CM000669.1:g.117267725A>T | GRCh37 |
| NC_000007.12:g.117054961A>T | NCBI36 |
| NG_016465.4:g.166888A>T , LRG_663:g.166888A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+101A>T | ENSP00000497673.2:n.3517+101A>T | |
| ENST00000647978.2:c.*3332A>T | ENSP00000497658.1:n.*3332A>T | |
| ENST00000649781.2:c.3435A>T | ENSP00000497203.1:p.Ser1145= | |
| ENST00000685018.2:c.3618A>T | ENSP00000510194.2:p.Ser1206= | |
| ENST00000687278.2:c.*271A>T | ENSP00000509593.2:n.*271A>T | |
| ENST00000699585.1:c.3517+101A>T | ENSP00000514456.1:n.3517+101A>T | |
| ENST00000699598.1:c.3618A>T | ENSP00000514467.1:p.Ser1206= | |
| ENST00000699599.1:c.3618A>T | ENSP00000514468.1:p.Ser1206= | |
| ENST00000699600.1:c.*279A>T | ENSP00000514469.1:n.*279A>T | |
| ENST00000699601.1:c.*1993A>T | ENSP00000514470.1:n.*1993A>T | |
| ENST00000699602.1:c.3612A>T | ENSP00000514471.1:p.Ser1204= | |
| ENST00000699604.1:c.*3442A>T | ENSP00000514472.1:n.*3442A>T | |
| ENST00000699605.1:c.3192A>T | ENSP00000514473.1:p.Ser1064= | |
| ENST00000685018.1:c.366A>T | ENSP00000510194.1:p.Ser122= | |
| ENST00000687278.1:c.1405A>T | ENSP00000509593.1:n.1405A>T | |
| ENST00000689011.1:c.200A>T | ||
| ENST00000003084.11:c.3618A>T MANE Select | ENSP00000003084.6:p.Ser1206= | |
| ENST00000647720.1:c.1167+101A>T | ||
| ENST00000648260.1:c.2400A>T | ENSP00000497957.1:p.Ser800= | |
| ENST00000649406.1:c.3435A>T | ENSP00000497965.1:p.Ser1145= | |
| ENST00000649781.1:c.3435A>T | ENSP00000497203.1:p.Ser1145= | |
| ENST00000003084.10:c.3618A>T | ENSP00000003084.6:p.Ser1206= | |
| ENST00000426809.5:c.3528A>T | ENSP00000389119.1:p.Ser1176= | |
| ENST00000468795.1:c.443A>T | ||
| NM_000492.3:c.3618A>T , LRG_663t1:c.3618A>T | NP_000483.3:p.Ser1206= | |
| XM_011515751.1:c.3708A>T | XP_011514053.1:p.Ser1236= | |
| XM_011515752.1:c.3708A>T | XP_011514054.1:p.Ser1236= | |
| XM_011515753.1:c.3375A>T | XP_011514055.1:p.Ser1125= | |
| XM_011515754.1:c.3375A>T | XP_011514056.1:p.Ser1125= | |
| NM_000492.4:c.3618A>T MANE Select | NP_000483.3:p.Ser1206= |