Linked Data
ClinVar Variation Id:
298881
ClinVar RCV Id:
RCV000328189
dbSNP Id:
rs559572636
gnomAD v2:
10-112772900-G-A
gnomAD v3:
10-111013142-G-A
gnomAD v4:
10-111013142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111013142G>A , CM000672.2:g.111013142G>A | GRCh38 |
| NC_000010.10:g.112772900G>A , CM000672.1:g.112772900G>A | GRCh37 |
| NC_000010.9:g.112762890G>A | NCBI36 |
| NG_028922.1:g.98600G>A , LRG_753:g.98600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.*1324G>A | ENSP00000265277.5:n.*1324G>A | |
| ENST00000451838.2:c.*1324G>A | ENSP00000408275.2:n.*1324G>A | |
| ENST00000685059.1:c.*1324G>A | ENSP00000510210.1:n.*1324G>A | |
| ENST00000685613.1:c.*2069G>A | ENSP00000510564.1:n.*2069G>A | |
| ENST00000688928.1:c.*1324G>A | ENSP00000509273.1:n.*1324G>A | |
| ENST00000689118.1:c.*1324G>A | ENSP00000510554.1:n.*1324G>A | |
| ENST00000689300.1:c.*1324G>A | ENSP00000510639.1:n.*1324G>A | |
| ENST00000689997.1:c.*1324G>A | ENSP00000510700.1:n.*1324G>A | |
| ENST00000691369.1:c.*1324G>A | ENSP00000509754.1:n.*1324G>A | |
| ENST00000691441.1:c.*1324G>A | ENSP00000509686.1:n.*1324G>A | |
| ENST00000691903.1:c.*1515G>A | ENSP00000510314.1:n.*1515G>A | |
| ENST00000369452.9:c.*1324G>A MANE Select | ENSP00000358464.5:n.*1324G>A | |
| ENST00000265277.9:c.*1324G>A | ENSP00000265277.5:n.*1324G>A | |
| ENST00000369452.8:c.*1324G>A | ENSP00000358464.4:n.*1324G>A | |
| ENST00000451838.1:c.2443G>A | ENSP00000408275.1:n.2443G>A | |
| NM_001269039.1:c.*1324G>A | NP_001255968.1:n.*1324G>A | |
| NM_007373.3:c.*1324G>A , LRG_753t1:c.*1324G>A | NP_031399.2:n.*1324G>A | |
| XM_011540216.1:c.*1324G>A | XP_011538518.1:n.*1324G>A | |
| NM_001269039.2:c.*1324G>A | NP_001255968.1:n.*1324G>A | |
| NM_001324336.1:c.*1324G>A | NP_001311265.1:n.*1324G>A | |
| NM_001324337.1:c.*1324G>A | NP_001311266.1:n.*1324G>A | |
| NR_136749.1:n.2485G>A | ||
| NM_007373.4:c.*1324G>A MANE Select | NP_031399.2:n.*1324G>A | |
| NM_001269039.3:c.*1324G>A | NP_001255968.1:n.*1324G>A | |
| NM_001324336.2:c.*1324G>A | NP_001311265.1:n.*1324G>A | |
| NM_001324337.2:c.*1324G>A | NP_001311266.1:n.*1324G>A | |
| NR_136749.2:n.2424G>A |