Linked Data
ClinVar Variation Id:
67030
ClinVar RCV Id:
RCV000057583
RCV000284895
RCV000246256
RCV000337547
RCV000355198
RCV000297971
RCV000398200
RCV000764975
RCV001255594
RCV001841666
RCV003448257
dbSNP Id:
rs145229963
ExAC:
11:2610046 G / A
gnomAD v2:
11-2610046-G-A
gnomAD v3:
11-2588816-G-A
gnomAD v4:
11-2588816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588816G>A , CM000673.2:g.2588816G>A | GRCh38 |
| NC_000011.9:g.2610046G>A , CM000673.1:g.2610046G>A | GRCh37 |
| NC_000011.8:g.2566622G>A | NCBI36 |
| NG_008935.1:g.148826G>A , LRG_287:g.148826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.998G>A | ENSP00000434560.2:p.Arg333Gln | |
| ENST00000646564.2:c.815G>A | ENSP00000495806.2:p.Arg272Gln | |
| ENST00000155840.12:c.1355G>A MANE Select | ENSP00000155840.2:p.Arg452Gln | |
| ENST00000335475.6:c.974G>A | ENSP00000334497.5:p.Arg325Gln | |
| ENST00000646564.1:c.461G>A | ENSP00000495806.1:p.Arg154Gln | |
| ENST00000155840.9:c.1355G>A | ENSP00000155840.2:p.Arg452Gln | |
| ENST00000335475.5:c.974G>A | ENSP00000334497.5:p.Arg325Gln | |
| NM_000218.2:c.1355G>A , LRG_287t1:c.1355G>A | NP_000209.2:p.Arg452Gln | |
| NM_181798.1:c.974G>A , LRG_287t2:c.974G>A | NP_861463.1:p.Arg325Gln | |
| NM_000218.3:c.1355G>A MANE Select | NP_000209.2:p.Arg452Gln |