Linked Data
ClinVar Variation Id:
286022
dbSNP Id:
rs147533489
ExAC:
2:238234302 G / A
gnomAD v2:
2-238234302-G-A
gnomAD v3:
2-237325659-G-A
gnomAD v4:
2-237325659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325659G>A , CM000664.2:g.237325659G>A | GRCh38 |
| NC_000002.11:g.238234302G>A , CM000664.1:g.238234302G>A | GRCh37 |
| NC_000002.10:g.237899041G>A | NCBI36 |
| NG_008676.1:g.93549C>T , LRG_473:g.93549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1775C>T | ||
| ENST00000353578.9:c.8776C>T | ENSP00000315873.4:p.Pro2926Ser | |
| ENST00000682957.1:c.1521C>T | ||
| ENST00000683348.1:c.260C>T | ENSP00000508058.1:n.260C>T | |
| ENST00000295550.9:c.9394C>T MANE Select | ENSP00000295550.4:p.Pro3132Ser | |
| ENST00000295550.8:c.9394C>T | ENSP00000295550.4:p.Pro3132Ser | |
| ENST00000347401.7:c.7570C>T | ENSP00000315609.4:p.Pro2524Ser | |
| ENST00000353578.8:c.8776C>T | ENSP00000315873.4:p.Pro2926Ser | |
| ENST00000409809.5:c.8776C>T | ENSP00000386844.1:p.Pro2926Ser | |
| ENST00000472056.5:c.7573C>T | ENSP00000418285.1:p.Pro2525Ser | |
| ENST00000473258.1:n.4522C>T | ||
| ENST00000491769.1:n.5836C>T | ||
| NM_004369.3:c.9394C>T , LRG_473t1:c.9394C>T | NP_004360.2:p.Pro3132Ser | |
| NM_057166.4:c.7573C>T | NP_476507.3:p.Pro2525Ser | |
| NM_057167.3:c.8776C>T | NP_476508.2:p.Pro2926Ser | |
| XM_005246065.1:c.8794C>T | XP_005246122.1:p.Pro2932Ser | |
| XM_005246066.1:c.8173C>T | XP_005246123.1:p.Pro2725Ser | |
| XM_006712253.1:c.8893C>T | XP_006712316.1:p.Pro2965Ser | |
| XM_011510574.1:c.9391C>T | XP_011508876.1:p.Pro3131Ser | |
| XM_011510575.1:c.6988C>T | XP_011508877.1:p.Pro2330Ser | |
| XM_017003304.1:c.6988C>T | XP_016858793.1:p.Pro2330Ser | |
| XM_024452684.1:c.8173C>T | XP_024308452.1:p.Pro2725Ser | |
| NM_004369.4:c.9394C>T MANE Select | NP_004360.2:p.Pro3132Ser | |
| NM_057166.5:c.7573C>T | NP_476507.3:p.Pro2525Ser | |
| NM_057167.4:c.8776C>T | NP_476508.2:p.Pro2926Ser |