Linked Data
ClinVar Variation Id:
498115
dbSNP Id:
rs992204564
gnomAD v2:
2-238244949-G-A
gnomAD v3:
2-237336306-G-A
gnomAD v4:
2-237336306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336306G>A , CM000664.2:g.237336306G>A | GRCh38 |
| NC_000002.11:g.238244949G>A , CM000664.1:g.238244949G>A | GRCh37 |
| NC_000002.10:g.237909688G>A | NCBI36 |
| NG_008676.1:g.82902C>T , LRG_473:g.82902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1439C>T | ||
| ENST00000353578.9:c.8176C>T | ENSP00000315873.4:p.Pro2726Ser | |
| ENST00000682957.1:c.921C>T | ||
| ENST00000684508.1:n.1061C>T | ||
| ENST00000295550.9:c.8794C>T MANE Select | ENSP00000295550.4:p.Pro2932Ser | |
| ENST00000295550.8:c.8794C>T | ENSP00000295550.4:p.Pro2932Ser | |
| ENST00000347401.7:c.6970C>T | ENSP00000315609.4:p.Pro2324Ser | |
| ENST00000353578.8:c.8176C>T | ENSP00000315873.4:p.Pro2726Ser | |
| ENST00000409809.5:c.8176C>T | ENSP00000386844.1:p.Pro2726Ser | |
| ENST00000472056.5:c.6973C>T | ENSP00000418285.1:p.Pro2325Ser | |
| ENST00000491769.1:n.5236C>T | ||
| NM_004369.3:c.8794C>T , LRG_473t1:c.8794C>T | NP_004360.2:p.Pro2932Ser | |
| NM_057166.4:c.6973C>T | NP_476507.3:p.Pro2325Ser | |
| NM_057167.3:c.8176C>T | NP_476508.2:p.Pro2726Ser | |
| XM_005246065.1:c.8194C>T | XP_005246122.1:p.Pro2732Ser | |
| XM_005246066.1:c.7573C>T | XP_005246123.1:p.Pro2525Ser | |
| XM_006712253.1:c.8293C>T | XP_006712316.1:p.Pro2765Ser | |
| XM_011510574.1:c.8791C>T | XP_011508876.1:p.Pro2931Ser | |
| XM_011510575.1:c.6388C>T | XP_011508877.1:p.Pro2130Ser | |
| XM_017003304.1:c.6388C>T | XP_016858793.1:p.Pro2130Ser | |
| XM_024452684.1:c.7573C>T | XP_024308452.1:p.Pro2525Ser | |
| NM_004369.4:c.8794C>T MANE Select | NP_004360.2:p.Pro2932Ser | |
| NM_057166.5:c.6973C>T | NP_476507.3:p.Pro2325Ser | |
| NM_057167.4:c.8176C>T | NP_476508.2:p.Pro2726Ser |