Linked Data
ClinVar Variation Id:
53425
ClinVar RCV Id:
RCV000056357
RCV000724153
RCV001826628
RCV002247433
RCV000660821
RCV001004231
RCV003473472
RCV002496711
dbSNP Id:
rs368505753
ExAC:
7:117149123 C / T
gnomAD v2:
7-117149123-C-T
gnomAD v3:
7-117509069-C-T
gnomAD v4:
7-117509069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117509069C>T , CM000669.2:g.117509069C>T | GRCh38 |
| NC_000007.13:g.117149123C>T , CM000669.1:g.117149123C>T | GRCh37 |
| NC_000007.12:g.116936359C>T | NCBI36 |
| NG_016465.4:g.48286C>T , LRG_663:g.48286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.200C>T | ENSP00000497673.2:p.Pro67Leu | |
| ENST00000647978.2:c.*97C>T | ENSP00000497658.1:n.*97C>T | |
| ENST00000649781.2:c.200C>T | ENSP00000497203.1:p.Pro67Leu | |
| ENST00000649850.2:c.*97C>T | ENSP00000514457.1:n.*97C>T | |
| ENST00000685018.2:c.200C>T | ENSP00000510194.2:p.Pro67Leu | |
| ENST00000687278.2:c.200C>T | ENSP00000509593.2:p.Pro67Leu | |
| ENST00000699585.1:c.200C>T | ENSP00000514456.1:p.Pro67Leu | |
| ENST00000699596.1:c.200C>T | ENSP00000514465.1:p.Pro67Leu | |
| ENST00000699597.1:c.200C>T | ENSP00000514466.1:p.Pro67Leu | |
| ENST00000699598.1:c.200C>T | ENSP00000514467.1:p.Pro67Leu | |
| ENST00000699599.1:c.200C>T | ENSP00000514468.1:p.Pro67Leu | |
| ENST00000699600.1:c.200C>T | ENSP00000514469.1:p.Pro67Leu | |
| ENST00000699601.1:c.200C>T | ENSP00000514470.1:p.Pro67Leu | |
| ENST00000699602.1:c.200C>T | ENSP00000514471.1:p.Pro67Leu | |
| ENST00000699604.1:c.*24C>T | ENSP00000514472.1:n.*24C>T | |
| ENST00000699605.1:c.-44C>T | ENSP00000514473.1:n.-44C>T | |
| ENST00000446805.2:c.-44C>T | ENSP00000417012.1:n.-44C>T | |
| ENST00000003084.11:c.200C>T MANE Select | ENSP00000003084.6:p.Pro67Leu | |
| ENST00000647639.1:n.284C>T | ||
| ENST00000647978.1:c.*97C>T | ENSP00000497658.1:n.*97C>T | |
| ENST00000648260.1:c.200C>T | ENSP00000497957.1:p.Pro67Leu | |
| ENST00000649406.1:c.200C>T | ENSP00000497965.1:p.Pro67Leu | |
| ENST00000649781.1:c.200C>T | ENSP00000497203.1:p.Pro67Leu | |
| ENST00000649850.1:n.357C>T | ||
| ENST00000673785.1:c.-44C>T | ENSP00000501235.1:n.-44C>T | |
| ENST00000003084.10:c.200C>T | ENSP00000003084.6:p.Pro67Leu | |
| ENST00000426809.5:c.200C>T | ENSP00000389119.1:p.Pro67Leu | |
| ENST00000446805.1:c.-44C>T | ENSP00000417012.1:n.-44C>T | |
| NM_000492.3:c.200C>T , LRG_663t1:c.200C>T | NP_000483.3:p.Pro67Leu | |
| XM_011515751.1:c.290C>T | XP_011514053.1:p.Pro97Leu | |
| XM_011515752.1:c.290C>T | XP_011514054.1:p.Pro97Leu | |
| XM_011515753.1:c.-44C>T | XP_011514055.1:n.-44C>T | |
| XM_011515754.1:c.-44C>T | XP_011514056.1:n.-44C>T | |
| NM_000492.4:c.200C>T MANE Select | NP_000483.3:p.Pro67Leu |