Linked Data
ClinVar Variation Id:
35872
ClinVar RCV Id:
RCV000029527
RCV000079000
RCV000755234
RCV001642238
RCV001163789
RCV001801912
RCV003333727
dbSNP Id:
rs34911792
ExAC:
7:117267812 T / G
gnomAD v2:
7-117267812-T-G
gnomAD v3:
7-117627758-T-G
gnomAD v4:
7-117627758-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627758T>G , CM000669.2:g.117627758T>G | GRCh38 |
| NC_000007.13:g.117267812T>G , CM000669.1:g.117267812T>G | GRCh37 |
| NC_000007.12:g.117055048T>G | NCBI36 |
| NG_016465.4:g.166975T>G , LRG_663:g.166975T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3517+188T>G | ENSP00000497673.2:n.3517+188T>G | |
| ENST00000647978.2:c.*3419T>G | ENSP00000497658.1:n.*3419T>G | |
| ENST00000649781.2:c.3522T>G | ENSP00000497203.1:p.Ser1174Arg | |
| ENST00000685018.2:c.3705T>G | ENSP00000510194.2:p.Ser1235Arg | |
| ENST00000687278.2:c.*358T>G | ENSP00000509593.2:n.*358T>G | |
| ENST00000699585.1:c.3517+188T>G | ENSP00000514456.1:n.3517+188T>G | |
| ENST00000699598.1:c.3705T>G | ENSP00000514467.1:p.Ser1235Arg | |
| ENST00000699599.1:c.3705T>G | ENSP00000514468.1:p.Ser1235Arg | |
| ENST00000699600.1:c.*366T>G | ENSP00000514469.1:n.*366T>G | |
| ENST00000699601.1:c.*2080T>G | ENSP00000514470.1:n.*2080T>G | |
| ENST00000699602.1:c.3699T>G | ENSP00000514471.1:p.Ser1233Arg | |
| ENST00000699604.1:c.*3529T>G | ENSP00000514472.1:n.*3529T>G | |
| ENST00000699605.1:c.3279T>G | ENSP00000514473.1:p.Ser1093Arg | |
| ENST00000685018.1:c.453T>G | ENSP00000510194.1:p.Ser151Arg | |
| ENST00000687278.1:c.1492T>G | ENSP00000509593.1:n.1492T>G | |
| ENST00000689011.1:c.287T>G | ||
| ENST00000003084.11:c.3705T>G MANE Select | ENSP00000003084.6:p.Ser1235Arg | |
| ENST00000647720.1:c.1167+188T>G | ||
| ENST00000648260.1:c.2487T>G | ENSP00000497957.1:p.Ser829Arg | |
| ENST00000649406.1:c.3522T>G | ENSP00000497965.1:p.Ser1174Arg | |
| ENST00000649781.1:c.3522T>G | ENSP00000497203.1:p.Ser1174Arg | |
| ENST00000003084.10:c.3705T>G | ENSP00000003084.6:p.Ser1235Arg | |
| ENST00000426809.5:c.3615T>G | ENSP00000389119.1:p.Ser1205Arg | |
| ENST00000468795.1:c.530T>G | ||
| NM_000492.3:c.3705T>G , LRG_663t1:c.3705T>G | NP_000483.3:p.Ser1235Arg | |
| XM_011515751.1:c.3795T>G | XP_011514053.1:p.Ser1265Arg | |
| XM_011515752.1:c.3795T>G | XP_011514054.1:p.Ser1265Arg | |
| XM_011515753.1:c.3462T>G | XP_011514055.1:p.Ser1154Arg | |
| XM_011515754.1:c.3462T>G | XP_011514056.1:p.Ser1154Arg | |
| NM_000492.4:c.3705T>G MANE Select | NP_000483.3:p.Ser1235Arg |