Linked Data
ClinVar Variation Id:
521888
dbSNP Id:
rs538871720
ExAC:
3:47162755 G / A
gnomAD v2:
3-47162755-G-A
gnomAD v3:
3-47121265-G-A
gnomAD v4:
3-47121265-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47121265G>A , CM000665.2:g.47121265G>A | GRCh38 |
| NC_000003.11:g.47162755G>A , CM000665.1:g.47162755G>A | GRCh37 |
| NC_000003.10:g.47137759G>A | NCBI36 |
| NG_032091.1:g.47713C>T , LRG_775:g.47713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.3239C>T | ENSP00000491413.2:p.Ala1080Val | |
| ENST00000685005.1:c.3272C>T | ENSP00000509568.1:p.Ala1091Val | |
| ENST00000685399.1:c.1251C>T | ||
| ENST00000685505.1:c.1312C>T | ||
| ENST00000686773.1:c.1251C>T | ||
| ENST00000686876.1:c.387C>T | ||
| ENST00000688290.1:c.1251C>T | ||
| ENST00000690157.1:c.387C>T | ||
| ENST00000690461.1:c.1535C>T | ENSP00000509352.1:p.Ala512Val | |
| ENST00000691544.1:c.72-23184C>T | ENSP00000510710.1:n.72-23184C>T | |
| ENST00000691902.1:c.387C>T | ||
| ENST00000692883.1:c.1312C>T | ||
| ENST00000693321.1:c.1251C>T | ||
| ENST00000409792.4:c.3371C>T MANE Select | ENSP00000386759.3:p.Ala1124Val | |
| ENST00000330022.11:c.2986C>T | ||
| ENST00000409792.3:c.3371C>T | ENSP00000386759.3:p.Ala1124Val | |
| ENST00000412450.1:c.3239C>T | ENSP00000416401.1:p.Ala1080Val | |
| ENST00000431180.5:c.2523C>T | ||
| ENST00000445387.5:c.2271C>T | ||
| NM_014159.6:c.3371C>T , LRG_775t1:c.3371C>T | NP_054878.5:p.Ala1124Val | |
| XM_011533631.1:c.3449C>T | XP_011531933.1:p.Ala1150Val | |
| XM_011533632.1:c.3395C>T | XP_011531934.1:p.Ala1132Val | |
| XM_011533633.1:c.3449C>T | XP_011531935.1:p.Ala1150Val | |
| XM_011533634.1:c.3239C>T | XP_011531936.1:p.Ala1080Val | |
| XR_940418.1:n.3464C>T | ||
| XR_940419.1:n.3552C>T | ||
| XR_940420.1:n.3552C>T | ||
| NM_001349370.1:c.3239C>T | NP_001336299.1:p.Ala1080Val | |
| NR_146158.1:n.3424C>T | ||
| XM_011533632.3:c.3395C>T | XP_011531934.1:p.Ala1132Val | |
| XM_024453487.1:c.3239C>T | XP_024309255.1:p.Ala1080Val | |
| XM_024453488.1:c.3239C>T | XP_024309256.1:p.Ala1080Val | |
| XM_024453489.1:c.3239C>T | XP_024309257.1:p.Ala1080Val | |
| XR_001740131.2:n.3424C>T | ||
| XR_002959510.1:n.3300C>T | ||
| XR_002959511.1:n.3300C>T | ||
| XR_002959512.1:n.3300C>T | ||
| XR_002959513.1:n.3300C>T | ||
| XR_002959514.1:n.3300C>T | ||
| XR_002959515.1:n.3300C>T | ||
| XR_002959516.1:n.3300C>T | ||
| XR_002959517.1:n.3300C>T | ||
| NM_001349370.2:c.3239C>T | NP_001336299.1:p.Ala1080Val | |
| NR_146158.2:n.3560C>T | ||
| NM_001349370.3:c.3239C>T | NP_001336299.1:p.Ala1080Val | |
| NM_014159.7:c.3371C>T MANE Select | NP_054878.5:p.Ala1124Val | |
| NR_146158.3:n.3560C>T |