Linked Data
ClinVar Variation Id:
1735660
ClinVar RCV Id:
RCV002355584
dbSNP Id:
rs760455218
ExAC:
7:117282643 C / T
gnomAD v2:
7-117282643-C-T
gnomAD v4:
7-117642589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642589C>T , CM000669.2:g.117642589C>T | GRCh38 |
| NC_000007.13:g.117282643C>T , CM000669.1:g.117282643C>T | GRCh37 |
| NC_000007.12:g.117069879C>T | NCBI36 |
| NG_016465.4:g.181806C>T , LRG_663:g.181806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*78C>T | ENSP00000497673.2:n.*78C>T | |
| ENST00000647978.2:c.*3583C>T | ENSP00000497658.1:n.*3583C>T | |
| ENST00000649781.2:c.3686C>T | ENSP00000497203.1:p.Pro1229Leu | |
| ENST00000685018.2:c.3869C>T | ENSP00000510194.2:p.Pro1290Leu | |
| ENST00000687278.2:c.*522C>T | ENSP00000509593.2:n.*522C>T | |
| ENST00000699585.1:c.*78C>T | ENSP00000514456.1:n.*78C>T | |
| ENST00000699598.1:c.3869C>T | ENSP00000514467.1:p.Pro1290Leu | |
| ENST00000699599.1:c.3869C>T | ENSP00000514468.1:p.Pro1290Leu | |
| ENST00000699600.1:c.*530C>T | ENSP00000514469.1:n.*530C>T | |
| ENST00000699601.1:c.*2244C>T | ENSP00000514470.1:n.*2244C>T | |
| ENST00000699602.1:c.3863C>T | ENSP00000514471.1:p.Pro1288Leu | |
| ENST00000699604.1:c.*3693C>T | ENSP00000514472.1:n.*3693C>T | |
| ENST00000699605.1:c.3443C>T | ENSP00000514473.1:p.Pro1148Leu | |
| ENST00000685018.1:c.617C>T | ENSP00000510194.1:p.Pro206Leu | |
| ENST00000687278.1:c.1656C>T | ENSP00000509593.1:n.1656C>T | |
| ENST00000689011.1:c.451C>T | ||
| ENST00000003084.11:c.3869C>T MANE Select | ENSP00000003084.6:p.Pro1290Leu | |
| ENST00000647720.1:c.1319C>T | ||
| ENST00000649781.1:c.3686C>T | ENSP00000497203.1:p.Pro1229Leu | |
| ENST00000003084.10:c.3869C>T | ENSP00000003084.6:p.Pro1290Leu | |
| ENST00000426809.5:c.3779C>T | ENSP00000389119.1:p.Pro1260Leu | |
| NM_000492.3:c.3869C>T , LRG_663t1:c.3869C>T | NP_000483.3:p.Pro1290Leu | |
| XM_011515751.1:c.3959C>T | XP_011514053.1:p.Pro1320Leu | |
| XM_011515752.1:c.3959C>T | XP_011514054.1:p.Pro1320Leu | |
| XM_011515753.1:c.3626C>T | XP_011514055.1:p.Pro1209Leu | |
| XM_011515754.1:c.3626C>T | XP_011514056.1:p.Pro1209Leu | |
| NM_000492.4:c.3869C>T MANE Select | NP_000483.3:p.Pro1290Leu |