Linked Data
dbSNP Id:
rs1293748625
gnomAD v2:
20-33519888-G-A
gnomAD v3:
20-34932085-G-A
gnomAD v4:
20-34932085-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34932085G>A , CM000682.2:g.34932085G>A | GRCh38 |
| NC_000020.10:g.33519888G>A , CM000682.1:g.33519888G>A | GRCh37 |
| NC_000020.9:g.32983549G>A | NCBI36 |
| NG_008848.1:g.28714C>T | |
| NG_008848.2:g.28943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.*523C>T | ENSP00000493524.1:n.*523C>T | |
| ENST00000642498.1:c.883C>T | ENSP00000493631.1:p.Pro295Ser | |
| ENST00000642538.1:c.*227C>T | ENSP00000493927.1:n.*227C>T | |
| ENST00000643188.1:c.883C>T | ENSP00000493903.1:p.Pro295Ser | |
| ENST00000643443.1:c.*590C>T | ENSP00000495572.1:n.*590C>T | |
| ENST00000643502.1:c.540C>T | ||
| ENST00000643908.1:n.1101C>T | ||
| ENST00000644538.1:n.1160C>T | ||
| ENST00000644793.1:c.883C>T | ENSP00000495750.1:p.Pro295Ser | |
| ENST00000645328.1:c.261C>T | ||
| ENST00000645408.1:c.416C>T | ||
| ENST00000645723.1:n.2122C>T | ||
| ENST00000646405.1:c.*301C>T | ENSP00000493744.1:n.*301C>T | |
| ENST00000646497.1:n.828C>T | ||
| ENST00000646512.1:n.1029C>T | ||
| ENST00000646735.1:c.550C>T | ENSP00000493763.1:p.Pro184Ser | |
| ENST00000651619.1:c.883C>T MANE Select | ENSP00000498303.1:p.Pro295Ser | |
| ENST00000216951.6:c.883C>T | ENSP00000216951.2:p.Pro295Ser | |
| ENST00000451957.2:c.550C>T | ENSP00000407517.2:p.Pro184Ser | |
| NM_000178.2:c.883C>T | NP_000169.1:p.Pro295Ser | |
| XM_005260406.3:c.883C>T | XP_005260463.1:p.Pro295Ser | |
| XM_011528796.1:c.883C>T | XP_011527098.1:p.Pro295Ser | |
| NM_000178.4:c.883C>T MANE Select | NP_000169.1:p.Pro295Ser | |
| NM_001322494.1:c.883C>T | NP_001309423.1:p.Pro295Ser | |
| NM_001322495.1:c.883C>T | NP_001309424.1:p.Pro295Ser |