Linked Data
ClinVar Variation Id:
311664
dbSNP Id:
rs574944914
gnomAD v2:
13-32973079-G-A
gnomAD v3:
13-32398942-G-A
gnomAD v4:
13-32398942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398942G>A , CM000675.2:g.32398942G>A | GRCh38 |
| NC_000013.10:g.32973079G>A , CM000675.1:g.32973079G>A | GRCh37 |
| NC_000013.9:g.31871079G>A | NCBI36 |
| NG_012772.3:g.88463G>A , LRG_293:g.88463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*952G>A | ENSP00000434898.2:n.*952G>A | |
| ENST00000530893.7:c.*172G>A | ENSP00000499438.2:n.*172G>A | |
| ENST00000380152.8:c.*172G>A MANE Select | ENSP00000369497.3:n.*172G>A | |
| ENST00000544455.6:c.*172G>A | ENSP00000439902.1:n.*172G>A | |
| ENST00000614259.2:c.10437G>A | ENSP00000506251.1:n.10437G>A | |
| ENST00000680887.1:c.*172G>A | ENSP00000505508.1:n.*172G>A | |
| ENST00000380152.7:c.*172G>A | ENSP00000369497.3:n.*172G>A | |
| ENST00000544455.5:c.*172G>A | ENSP00000439902.1:n.*172G>A | |
| NM_000059.3:c.*172G>A , LRG_293t1:c.*172G>A | NP_000050.2:n.*172G>A | |
| XM_011535203.1:c.*172G>A | XP_011533505.1:n.*172G>A | |
| XM_011535204.1:c.*172G>A | XP_011533506.1:n.*172G>A | |
| NM_000059.4:c.*172G>A MANE Select | NP_000050.3:n.*172G>A |