Linked Data
ClinVar Variation Id:
439902
ClinVar RCV Id:
RCV001829450
dbSNP Id:
rs1389815526
gnomAD v2:
12-110006643-T-A
gnomAD v4:
12-109568838-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568838T>A , CM000674.2:g.109568838T>A | GRCh38 |
| NC_000012.11:g.110006643T>A , CM000674.1:g.110006643T>A | GRCh37 |
| NC_000012.10:g.108491026T>A | NCBI36 |
| NG_007096.1:g.9660A>T | |
| NG_007702.1:g.144T>A , LRG_156:g.144T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.222A>T MANE Select | ENSP00000445920.1:p.Glu74Asp | |
| ENST00000420167.6:c.*51A>T | ENSP00000416136.2:n.*51A>T | |
| ENST00000503497.7:c.222A>T | ENSP00000474881.1:p.Glu74Asp | |
| ENST00000536760.1:n.225A>T | ||
| ENST00000537236.2:c.222A>T | ENSP00000483818.1:p.Glu74Asp | |
| ENST00000537496.5:c.222A>T | ENSP00000444793.1:p.Glu74Asp | |
| ENST00000540016.5:c.135-3662A>T | ENSP00000474582.1:n.135-3662A>T | |
| ENST00000541763.6:c.222A>T | ENSP00000474981.1:p.Glu74Asp | |
| ENST00000542390.5:n.249A>T | ||
| ENST00000544051.5:c.*16A>T | ENSP00000438079.1:n.*16A>T | |
| ENST00000545712.6:c.222A>T | ENSP00000445920.1:p.Glu74Asp | |
| NM_052845.3:c.222A>T | NP_443077.1:p.Glu74Asp | |
| NR_038118.1:n.295A>T | ||
| XM_024448961.1:c.222A>T | XP_024304729.1:p.Glu74Asp | |
| NM_052845.4:c.222A>T MANE Select | NP_443077.1:p.Glu74Asp | |
| NR_038118.2:n.246A>T |