Linked Data
ClinVar Variation Id:
1801020
ClinVar RCV Id:
RCV002462617
dbSNP Id:
rs770368638
ExAC:
20:3893205 G / A
gnomAD v2:
20-3893205-G-A
gnomAD v4:
20-3912558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912558G>A , CM000682.2:g.3912558G>A | GRCh38 |
| NC_000020.10:g.3893205G>A , CM000682.1:g.3893205G>A | GRCh37 |
| NC_000020.9:g.3841205G>A | NCBI36 |
| NG_008131.3:g.28720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1006G>A MANE Select | ENSP00000477429.2:p.Val336Met | |
| ENST00000316562.9:c.1336G>A | ENSP00000313377.4:p.Val446Met | |
| ENST00000336066.8:c.*347G>A | ENSP00000477229.2:n.*347G>A | |
| ENST00000610179.6:c.1006G>A | ENSP00000477429.2:p.Val336Met | |
| ENST00000643504.2:c.*636G>A | ENSP00000495157.2:n.*636G>A | |
| ENST00000646394.1:c.833G>A | ||
| ENST00000316562.8:c.1336G>A | ENSP00000313377.4:p.Val446Met | |
| ENST00000336066.7:c.*347G>A | ENSP00000477229.1:n.*347G>A | |
| ENST00000464452.1:n.571G>A | ||
| ENST00000495692.5:c.28G>A | ENSP00000476745.1:p.Val10Met | |
| ENST00000497424.5:c.463G>A | ENSP00000417609.1:p.Val155Met | |
| ENST00000610179.5:c.967G>A | ENSP00000477429.1:p.Val323Met | |
| ENST00000621507.1:c.463G>A | ENSP00000481523.1:p.Val155Met | |
| NM_024960.4:c.463G>A | NP_079236.3:p.Val155Met | |
| NM_153638.2:c.1336G>A | NP_705902.2:p.Val446Met | |
| NM_153640.2:c.463G>A | NP_705904.1:p.Val155Met | |
| XM_005260835.2:c.721G>A | XP_005260892.1:p.Val241Met | |
| XM_005260836.3:c.463G>A | XP_005260893.3:p.Val155Met | |
| XM_006723631.1:c.463G>A | XP_006723694.1:p.Val155Met | |
| XM_011529364.1:c.1235+1728G>A | XP_011527666.1:n.1235+1728G>A | |
| NM_001324191.1:c.463G>A | NP_001311120.1:p.Val155Met | |
| NM_001324193.1:c.28G>A | NP_001311122.1:p.Val10Met | |
| NM_024960.5:c.463G>A | NP_079236.3:p.Val155Met | |
| NM_153638.3:c.1336G>A | NP_705902.2:p.Val446Met | |
| NM_153640.3:c.463G>A | NP_705904.1:p.Val155Met | |
| NR_136715.1:n.1360G>A | ||
| XM_005260835.3:c.721G>A | XP_005260892.1:p.Val241Met | |
| XM_005260836.4:c.463G>A | XP_005260893.3:p.Val155Met | |
| XM_011529364.3:c.1235+1728G>A | XP_011527666.1:n.1235+1728G>A | |
| XM_017028077.2:c.28G>A | XP_016883566.1:p.Val10Met | |
| XM_017028078.2:c.28G>A | XP_016883567.1:p.Val10Met | |
| XM_017028079.2:c.28G>A | XP_016883568.1:p.Val10Met | |
| XM_024452002.1:c.28G>A | XP_024307770.1:p.Val10Met | |
| XR_002958533.1:n.2124G>A | ||
| NM_001324191.2:c.463G>A | NP_001311120.1:p.Val155Met | |
| NM_001324193.2:c.28G>A | NP_001311122.1:p.Val10Met | |
| NM_024960.6:c.463G>A | NP_079236.3:p.Val155Met | |
| NR_136715.2:n.907G>A | ||
| NM_001386393.1:c.1006G>A MANE Select | NP_001373322.1:p.Val336Met | |
| NM_153638.4:c.1336G>A | NP_705902.2:p.Val446Met | |
| NM_153640.4:c.463G>A | NP_705904.1:p.Val155Met |