Linked Data
ClinVar Variation Id:
3135
ClinVar RCV Id:
RCV000003283
RCV000045941
RCV000182159
RCV000498423
RCV000621184
RCV002247243
RCV004017223
dbSNP Id:
rs1800171
gnomAD v2:
11-2604775-G-A
gnomAD v3:
11-2583545-G-A
gnomAD v4:
11-2583545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583545G>A , CM000673.2:g.2583545G>A | GRCh38 |
| NC_000011.9:g.2604775G>A , CM000673.1:g.2604775G>A | GRCh37 |
| NC_000011.8:g.2561351G>A | NCBI36 |
| NG_008935.1:g.143555G>A , LRG_287:g.143555G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771G>A | ENSP00000434560.2:p.Ala257= | |
| ENST00000646564.2:c.588G>A | ENSP00000495806.2:p.Ala196= | |
| ENST00000155840.12:c.1032G>A MANE Select | ENSP00000155840.2:p.Ala344= | |
| ENST00000335475.6:c.651G>A | ENSP00000334497.5:p.Ala217= | |
| ENST00000646564.1:c.234G>A | ENSP00000495806.1:p.Ala78= | |
| ENST00000155840.9:c.1032G>A | ENSP00000155840.2:p.Ala344= | |
| ENST00000335475.5:c.651G>A | ENSP00000334497.5:p.Ala217= | |
| NM_000218.2:c.1032G>A , LRG_287t1:c.1032G>A | NP_000209.2:p.Ala344= | |
| NM_181798.1:c.651G>A , LRG_287t2:c.651G>A | NP_861463.1:p.Ala217= | |
| NM_000218.3:c.1032G>A MANE Select | NP_000209.2:p.Ala344= |