Linked Data
ClinVar Variation Id:
3014598
ClinVar RCV Id:
RCV003878221
dbSNP Id:
rs1167636573
gnomAD v2:
7-117267722-C-G
gnomAD v4:
7-117627668-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627668C>G , CM000669.2:g.117627668C>G | GRCh38 |
| NC_000007.13:g.117267722C>G , CM000669.1:g.117267722C>G | GRCh37 |
| NC_000007.12:g.117054958C>G | NCBI36 |
| NG_016465.4:g.166885C>G , LRG_663:g.166885C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+98C>G | ENSP00000497673.2:n.3517+98C>G | |
| ENST00000647978.2:c.*3329C>G | ENSP00000497658.1:n.*3329C>G | |
| ENST00000649781.2:c.3432C>G | ENSP00000497203.1:p.Pro1144= | |
| ENST00000685018.2:c.3615C>G | ENSP00000510194.2:p.Pro1205= | |
| ENST00000687278.2:c.*268C>G | ENSP00000509593.2:n.*268C>G | |
| ENST00000699585.1:c.3517+98C>G | ENSP00000514456.1:n.3517+98C>G | |
| ENST00000699598.1:c.3615C>G | ENSP00000514467.1:p.Pro1205= | |
| ENST00000699599.1:c.3615C>G | ENSP00000514468.1:p.Pro1205= | |
| ENST00000699600.1:c.*276C>G | ENSP00000514469.1:n.*276C>G | |
| ENST00000699601.1:c.*1990C>G | ENSP00000514470.1:n.*1990C>G | |
| ENST00000699602.1:c.3609C>G | ENSP00000514471.1:p.Pro1203= | |
| ENST00000699604.1:c.*3439C>G | ENSP00000514472.1:n.*3439C>G | |
| ENST00000699605.1:c.3189C>G | ENSP00000514473.1:p.Pro1063= | |
| ENST00000685018.1:c.363C>G | ENSP00000510194.1:p.Pro121= | |
| ENST00000687278.1:c.1402C>G | ENSP00000509593.1:n.1402C>G | |
| ENST00000689011.1:c.197C>G | ||
| ENST00000003084.11:c.3615C>G MANE Select | ENSP00000003084.6:p.Pro1205= | |
| ENST00000647720.1:c.1167+98C>G | ||
| ENST00000648260.1:c.2397C>G | ENSP00000497957.1:p.Pro799= | |
| ENST00000649406.1:c.3432C>G | ENSP00000497965.1:p.Pro1144= | |
| ENST00000649781.1:c.3432C>G | ENSP00000497203.1:p.Pro1144= | |
| ENST00000003084.10:c.3615C>G | ENSP00000003084.6:p.Pro1205= | |
| ENST00000426809.5:c.3525C>G | ENSP00000389119.1:p.Pro1175= | |
| ENST00000468795.1:c.440C>G | ||
| NM_000492.3:c.3615C>G , LRG_663t1:c.3615C>G | NP_000483.3:p.Pro1205= | |
| XM_011515751.1:c.3705C>G | XP_011514053.1:p.Pro1235= | |
| XM_011515752.1:c.3705C>G | XP_011514054.1:p.Pro1235= | |
| XM_011515753.1:c.3372C>G | XP_011514055.1:p.Pro1124= | |
| XM_011515754.1:c.3372C>G | XP_011514056.1:p.Pro1124= | |
| NM_000492.4:c.3615C>G MANE Select | NP_000483.3:p.Pro1205= |