Linked Data
ClinVar Variation Id:
7137
ClinVar RCV Id:
RCV000007557
RCV000508142
RCV000780138
RCV001004500
RCV001831531
RCV002504763
RCV003473016
dbSNP Id:
rs74767530
ExAC:
7:117267591 C / T
gnomAD v2:
7-117267591-C-T
gnomAD v3:
7-117627537-C-T
gnomAD v4:
7-117627537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627537C>T , CM000669.2:g.117627537C>T | GRCh38 |
| NC_000007.13:g.117267591C>T , CM000669.1:g.117267591C>T | GRCh37 |
| NC_000007.12:g.117054827C>T | NCBI36 |
| NG_016465.4:g.166754C>T , LRG_663:g.166754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3484C>T | ENSP00000497673.2:p.Arg1162Ter | |
| ENST00000647978.2:c.*3198C>T | ENSP00000497658.1:n.*3198C>T | |
| ENST00000649781.2:c.3301C>T | ENSP00000497203.1:p.Arg1101Ter | |
| ENST00000685018.2:c.3484C>T | ENSP00000510194.2:p.Arg1162Ter | |
| ENST00000687278.2:c.*137C>T | ENSP00000509593.2:n.*137C>T | |
| ENST00000699585.1:c.3484C>T | ENSP00000514456.1:p.Arg1162Ter | |
| ENST00000699598.1:c.3484C>T | ENSP00000514467.1:p.Arg1162Ter | |
| ENST00000699599.1:c.3484C>T | ENSP00000514468.1:p.Arg1162Ter | |
| ENST00000699600.1:c.*145C>T | ENSP00000514469.1:n.*145C>T | |
| ENST00000699601.1:c.*1859C>T | ENSP00000514470.1:n.*1859C>T | |
| ENST00000699602.1:c.3478C>T | ENSP00000514471.1:p.Arg1160Ter | |
| ENST00000699604.1:c.*3308C>T | ENSP00000514472.1:n.*3308C>T | |
| ENST00000699605.1:c.3058C>T | ENSP00000514473.1:p.Arg1020Ter | |
| ENST00000685018.1:c.232C>T | ENSP00000510194.1:p.Arg78Ter | |
| ENST00000687278.1:c.1271C>T | ENSP00000509593.1:n.1271C>T | |
| ENST00000689011.1:c.66C>T | ||
| ENST00000003084.11:c.3484C>T MANE Select | ENSP00000003084.6:p.Arg1162Ter | |
| ENST00000647720.1:c.1134C>T | ||
| ENST00000648260.1:c.2266C>T | ENSP00000497957.1:p.Arg756Ter | |
| ENST00000649406.1:c.3301C>T | ENSP00000497965.1:p.Arg1101Ter | |
| ENST00000649781.1:c.3301C>T | ENSP00000497203.1:p.Arg1101Ter | |
| ENST00000003084.10:c.3484C>T | ENSP00000003084.6:p.Arg1162Ter | |
| ENST00000426809.5:c.3394C>T | ENSP00000389119.1:p.Arg1132Ter | |
| ENST00000468795.1:c.309C>T | ||
| NM_000492.3:c.3484C>T , LRG_663t1:c.3484C>T | NP_000483.3:p.Arg1162Ter | |
| XM_011515751.1:c.3574C>T | XP_011514053.1:p.Arg1192Ter | |
| XM_011515752.1:c.3574C>T | XP_011514054.1:p.Arg1192Ter | |
| XM_011515753.1:c.3241C>T | XP_011514055.1:p.Arg1081Ter | |
| XM_011515754.1:c.3241C>T | XP_011514056.1:p.Arg1081Ter | |
| NM_000492.4:c.3484C>T MANE Select | NP_000483.3:p.Arg1162Ter |