Linked Data
ClinVar Variation Id:
1313092
ClinVar RCV Id:
RCV001769043
dbSNP Id:
rs1800120
gnomAD v4:
7-117627538-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627538G>C , CM000669.2:g.117627538G>C | GRCh38 |
| NC_000007.13:g.117267592G>C , CM000669.1:g.117267592G>C | GRCh37 |
| NC_000007.12:g.117054828G>C | NCBI36 |
| NG_016465.4:g.166755G>C , LRG_663:g.166755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3485G>C | ENSP00000497673.2:p.Arg1162Pro | |
| ENST00000647978.2:c.*3199G>C | ENSP00000497658.1:n.*3199G>C | |
| ENST00000649781.2:c.3302G>C | ENSP00000497203.1:p.Arg1101Pro | |
| ENST00000685018.2:c.3485G>C | ENSP00000510194.2:p.Arg1162Pro | |
| ENST00000687278.2:c.*138G>C | ENSP00000509593.2:n.*138G>C | |
| ENST00000699585.1:c.3485G>C | ENSP00000514456.1:p.Arg1162Pro | |
| ENST00000699598.1:c.3485G>C | ENSP00000514467.1:p.Arg1162Pro | |
| ENST00000699599.1:c.3485G>C | ENSP00000514468.1:p.Arg1162Pro | |
| ENST00000699600.1:c.*146G>C | ENSP00000514469.1:n.*146G>C | |
| ENST00000699601.1:c.*1860G>C | ENSP00000514470.1:n.*1860G>C | |
| ENST00000699602.1:c.3479G>C | ENSP00000514471.1:p.Arg1160Pro | |
| ENST00000699604.1:c.*3309G>C | ENSP00000514472.1:n.*3309G>C | |
| ENST00000699605.1:c.3059G>C | ENSP00000514473.1:p.Arg1020Pro | |
| ENST00000685018.1:c.233G>C | ENSP00000510194.1:p.Arg78Pro | |
| ENST00000687278.1:c.1272G>C | ENSP00000509593.1:n.1272G>C | |
| ENST00000689011.1:c.67G>C | ||
| ENST00000003084.11:c.3485G>C MANE Select | ENSP00000003084.6:p.Arg1162Pro | |
| ENST00000647720.1:c.1135G>C | ||
| ENST00000648260.1:c.2267G>C | ENSP00000497957.1:p.Arg756Pro | |
| ENST00000649406.1:c.3302G>C | ENSP00000497965.1:p.Arg1101Pro | |
| ENST00000649781.1:c.3302G>C | ENSP00000497203.1:p.Arg1101Pro | |
| ENST00000003084.10:c.3485G>C | ENSP00000003084.6:p.Arg1162Pro | |
| ENST00000426809.5:c.3395G>C | ENSP00000389119.1:p.Arg1132Pro | |
| ENST00000468795.1:c.310G>C | ||
| NM_000492.3:c.3485G>C , LRG_663t1:c.3485G>C | NP_000483.3:p.Arg1162Pro | |
| XM_011515751.1:c.3575G>C | XP_011514053.1:p.Arg1192Pro | |
| XM_011515752.1:c.3575G>C | XP_011514054.1:p.Arg1192Pro | |
| XM_011515753.1:c.3242G>C | XP_011514055.1:p.Arg1081Pro | |
| XM_011515754.1:c.3242G>C | XP_011514056.1:p.Arg1081Pro | |
| NM_000492.4:c.3485G>C MANE Select | NP_000483.3:p.Arg1162Pro |