Linked Data
ClinVar Variation Id:
52982
ClinVar RCV Id:
RCV000057585
RCV000182238
RCV000223932
RCV000620799
RCV000678936
RCV001852969
RCV002483048
dbSNP Id:
rs199473671
gnomAD v2:
11-2466464-G-A
gnomAD v3:
11-2445234-G-A
gnomAD v4:
11-2445234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445234G>A , CM000673.2:g.2445234G>A | GRCh38 |
| NC_000011.9:g.2466464G>A , CM000673.1:g.2466464G>A | GRCh37 |
| NC_000011.8:g.2423040G>A | NCBI36 |
| NG_008935.1:g.5244G>A , LRG_287:g.5244G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-149G>A | ENSP00000434560.2:n.24-149G>A | |
| ENST00000646564.2:c.136G>A | ENSP00000495806.2:p.Ala46Thr | |
| ENST00000155840.12:c.136G>A MANE Select | ENSP00000155840.2:p.Ala46Thr | |
| ENST00000155840.9:c.136G>A | ENSP00000155840.2:p.Ala46Thr | |
| ENST00000496887.6:c.24-149G>A | ENSP00000434560.1:n.24-149G>A | |
| NM_000218.2:c.136G>A , LRG_287t1:c.136G>A | NP_000209.2:p.Ala46Thr | |
| NM_000218.3:c.136G>A MANE Select | NP_000209.2:p.Ala46Thr |