Linked Data
ClinVar Variation Id:
1732204
ClinVar RCV Id:
RCV004048709
dbSNP Id:
rs868389032
gnomAD v2:
1-10403311-A-C
gnomAD v3:
1-10343253-A-C
gnomAD v4:
1-10343253-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10343253A>C , CM000663.2:g.10343253A>C | GRCh38 |
| NC_000001.10:g.10403311A>C , CM000663.1:g.10403311A>C | GRCh37 |
| NC_000001.9:g.10325898A>C | NCBI36 |
| NG_008069.1:g.137548A>C , LRG_252:g.137548A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3516A>C | ENSP00000512668.1:p.Arg1172= | |
| ENST00000696503.1:c.3579A>C | ENSP00000512669.1:p.Arg1193= | |
| ENST00000696504.1:c.3579A>C | ENSP00000512670.1:p.Arg1193= | |
| ENST00000676179.1:c.3654A>C MANE Select | ENSP00000502065.1:p.Arg1218= | |
| ENST00000263934.10:c.3516A>C | ENSP00000263934.6:p.Arg1172= | |
| ENST00000377081.5:c.3654A>C | ENSP00000366284.1:p.Arg1218= | |
| ENST00000377086.5:c.3654A>C | ENSP00000366290.1:p.Arg1218= | |
| ENST00000620295.2:c.3612A>C | ENSP00000478500.1:p.Arg1204= | |
| ENST00000622724.3:c.3576A>C | ENSP00000480063.1:p.Arg1192= | |
| NM_015074.3:c.3516A>C , LRG_252t1:c.3516A>C | NP_055889.2:p.Arg1172= | |
| NM_001365951.1:c.3654A>C | NP_001352880.1:p.Arg1218= | |
| NM_001365952.1:c.3654A>C | NP_001352881.1:p.Arg1218= | |
| NM_001365951.3:c.3654A>C MANE Select | NP_001352880.1:p.Arg1218= |