Linked Data
ClinVar Variation Id:
11930
dbSNP Id:
rs104895317
ExAC:
12:110032947 G / A
gnomAD v2:
12-110032947-G-A
gnomAD v3:
12-109595142-G-A
gnomAD v4:
12-109595142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595142G>A , CM000674.2:g.109595142G>A | GRCh38 |
| NC_000012.11:g.110032947G>A , CM000674.1:g.110032947G>A | GRCh37 |
| NC_000012.10:g.108517330G>A | NCBI36 |
| NG_007702.1:g.26448G>A , LRG_156:g.26448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.157G>A | ENSP00000439134.1:p.Ala53Thr | |
| ENST00000546277.6:c.1000G>A | ENSP00000438153.2:p.Ala334Thr | |
| ENST00000636529.2:n.639G>A | ||
| ENST00000697195.1:c.*764G>A | ENSP00000513181.1:n.*764G>A | |
| ENST00000697196.1:c.*173G>A | ENSP00000513182.1:n.*173G>A | |
| ENST00000697197.1:n.3029G>A | ||
| ENST00000697198.1:n.1384G>A | ||
| ENST00000228510.8:c.1000G>A MANE Select | ENSP00000228510.3:p.Ala334Thr | |
| ENST00000636529.1:c.625G>A | ||
| ENST00000636996.1:c.848G>A | ||
| ENST00000228510.7:c.1000G>A | ENSP00000228510.3:p.Ala334Thr | |
| ENST00000392727.7:c.844G>A | ENSP00000376487.3:p.Ala282Thr | |
| ENST00000447878.6:c.*447G>A | ENSP00000415555.2:n.*447G>A | |
| ENST00000537237.5:c.*673G>A | ENSP00000445382.1:n.*673G>A | |
| ENST00000539575.4:c.1000G>A | ENSP00000443551.2:p.Ala334Thr | |
| ENST00000539696.5:c.157G>A | ENSP00000439134.1:p.Ala53Thr | |
| ENST00000540353.1:n.3233G>A | ||
| ENST00000625889.2:c.844G>A | ENSP00000486846.1:p.Ala282Thr | |
| ENST00000629016.2:c.*447G>A | ENSP00000486804.1:n.*447G>A | |
| NM_000431.3:c.1000G>A | NP_000422.1:p.Ala334Thr | |
| NM_001114185.2:c.1000G>A | NP_001107657.1:p.Ala334Thr | |
| NM_001301182.1:c.844G>A | NP_001288111.1:p.Ala282Thr | |
| XM_011538372.1:c.1000G>A | XP_011536674.1:p.Ala334Thr | |
| XM_017019313.2:c.844G>A | XP_016874802.1:p.Ala282Thr | |
| XM_017019314.1:c.1000G>A | XP_016874803.1:p.Ala334Thr | |
| NM_000431.4:c.1000G>A MANE Select | NP_000422.1:p.Ala334Thr | |
| NM_001114185.3:c.1000G>A | NP_001107657.1:p.Ala334Thr | |
| NM_001301182.2:c.844G>A | NP_001288111.1:p.Ala282Thr |