Linked Data
ClinVar Variation Id:
46029
dbSNP Id:
rs370983472
ExAC:
10:73559386 G / A
gnomAD v2:
10-73559386-G-A
gnomAD v3:
10-71799629-G-A
gnomAD v4:
10-71799629-G-A
PubMed:
PMID:22135276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71799629G>A , CM000672.2:g.71799629G>A | GRCh38 |
| NC_000010.10:g.73559386G>A , CM000672.1:g.73559386G>A | GRCh37 |
| NC_000010.9:g.73229392G>A | NCBI36 |
| NG_008835.1:g.407683G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.7362G>A MANE Select | ENSP00000224721.9:p.Thr2454= | |
| ENST00000642965.1:c.1295G>A | ENSP00000495222.1:n.1295G>A | |
| ENST00000647092.1:c.959G>A | ENSP00000495176.1:n.959G>A | |
| ENST00000224721.10:c.7377G>A | ENSP00000224721.8:p.Thr2459= | |
| ENST00000398788.4:c.642G>A | ENSP00000381768.3:p.Thr214= | |
| ENST00000475158.1:n.898G>A | ||
| ENST00000619887.4:c.642G>A | ENSP00000478374.1:p.Thr214= | |
| ENST00000622827.4:c.7362G>A | ENSP00000483211.1:p.Thr2454= | |
| NM_001171933.1:c.642G>A | NP_001165404.1:p.Thr214= | |
| NM_001171934.1:c.642G>A | NP_001165405.1:p.Thr214= | |
| NM_022124.5:c.7362G>A | NP_071407.4:p.Thr2454= | |
| XM_006717940.2:c.7557G>A | XP_006718003.1:p.Thr2519= | |
| XM_006717942.2:c.7491G>A | XP_006718005.1:p.Thr2497= | |
| XM_011540039.1:c.7554G>A | XP_011538341.1:p.Thr2518= | |
| XM_011540040.1:c.7551G>A | XP_011538342.1:p.Thr2517= | |
| XM_011540041.1:c.7497G>A | XP_011538343.1:p.Thr2499= | |
| XM_011540042.1:c.7467G>A | XP_011538344.1:p.Thr2489= | |
| XM_011540043.1:c.7557G>A | XP_011538345.1:p.Thr2519= | |
| XM_011540044.1:c.7422G>A | XP_011538346.1:p.Thr2474= | |
| XM_011540045.1:c.7557G>A | XP_011538347.1:p.Thr2519= | |
| XM_011540046.1:c.7017G>A | XP_011538348.1:p.Thr2339= | |
| XM_011540047.1:c.6375G>A | XP_011538349.1:p.Thr2125= | |
| XM_011540052.1:c.3885G>A | XP_011538354.1:p.Thr1295= | |
| NM_022124.6:c.7362G>A MANE Select | NP_071407.4:p.Thr2454= |