Linked Data
ClinVar Variation Id:
1728143
ClinVar RCV Id:
RCV002320775
dbSNP Id:
rs370430187
gnomAD v2:
7-117251643-C-G
gnomAD v3:
7-117611589-C-G
gnomAD v4:
7-117611589-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611589C>G , CM000669.2:g.117611589C>G | GRCh38 |
| NC_000007.13:g.117251643C>G , CM000669.1:g.117251643C>G | GRCh37 |
| NC_000007.12:g.117038879C>G | NCBI36 |
| NG_016465.4:g.150806C>G , LRG_663:g.150806C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3148C>G | ENSP00000497673.2:p.Pro1050Ala | |
| ENST00000647978.2:c.*2862C>G | ENSP00000497658.1:n.*2862C>G | |
| ENST00000649781.2:c.2965C>G | ENSP00000497203.1:p.Pro989Ala | |
| ENST00000685018.2:c.3148C>G | ENSP00000510194.2:p.Pro1050Ala | |
| ENST00000687278.2:c.3148C>G | ENSP00000509593.2:p.Pro1050Ala | |
| ENST00000699585.1:c.3148C>G | ENSP00000514456.1:p.Pro1050Ala | |
| ENST00000699598.1:c.3148C>G | ENSP00000514467.1:p.Pro1050Ala | |
| ENST00000699599.1:c.3148C>G | ENSP00000514468.1:p.Pro1050Ala | |
| ENST00000699600.1:c.3148C>G | ENSP00000514469.1:p.Pro1050Ala | |
| ENST00000699601.1:c.*1448C>G | ENSP00000514470.1:n.*1448C>G | |
| ENST00000699602.1:c.3148C>G | ENSP00000514471.1:p.Pro1050Ala | |
| ENST00000699604.1:c.*2972C>G | ENSP00000514472.1:n.*2972C>G | |
| ENST00000699605.1:c.2722C>G | ENSP00000514473.1:p.Pro908Ala | |
| ENST00000687278.1:c.739C>G | ENSP00000509593.1:p.Pro247Ala | |
| ENST00000003084.11:c.3148C>G MANE Select | ENSP00000003084.6:p.Pro1050Ala | |
| ENST00000647720.1:c.798C>G | ||
| ENST00000648260.1:c.1930C>G | ENSP00000497957.1:p.Pro644Ala | |
| ENST00000649406.1:c.2965C>G | ENSP00000497965.1:p.Pro989Ala | |
| ENST00000649781.1:c.2965C>G | ENSP00000497203.1:p.Pro989Ala | |
| ENST00000003084.10:c.3148C>G | ENSP00000003084.6:p.Pro1050Ala | |
| ENST00000426809.5:c.3058C>G | ENSP00000389119.1:p.Pro1020Ala | |
| NM_000492.3:c.3148C>G , LRG_663t1:c.3148C>G | NP_000483.3:p.Pro1050Ala | |
| XM_011515751.1:c.3238C>G | XP_011514053.1:p.Pro1080Ala | |
| XM_011515752.1:c.3238C>G | XP_011514054.1:p.Pro1080Ala | |
| XM_011515753.1:c.2905C>G | XP_011514055.1:p.Pro969Ala | |
| XM_011515754.1:c.2905C>G | XP_011514056.1:p.Pro969Ala | |
| NM_000492.4:c.3148C>G MANE Select | NP_000483.3:p.Pro1050Ala |