Linked Data
ClinVar Variation Id:
2574445
ClinVar RCV Id:
RCV003319027
dbSNP Id:
rs1197405390
gnomAD v3:
11-17387143-G-A
gnomAD v4:
11-17387143-G-A
COSMIC:
COSM5050703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387143G>A , CM000673.2:g.17387143G>A | GRCh38 |
| NC_000011.9:g.17408690G>A , CM000673.1:g.17408690G>A | GRCh37 |
| NC_000011.8:g.17365266G>A | NCBI36 |
| NG_012446.1:g.6517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.688C>T | ENSP00000508090.1:p.Pro230Ser | |
| ENST00000682764.1:c.688C>T | ENSP00000506780.1:p.Pro230Ser | |
| ENST00000339994.5:c.949C>T MANE Select | ENSP00000345708.4:p.Pro317Ser | |
| ENST00000339994.4:c.949C>T | ENSP00000345708.4:p.Pro317Ser | |
| ENST00000528731.1:c.688C>T | ENSP00000434755.1:p.Pro230Ser | |
| NM_000525.3:c.949C>T | NP_000516.3:p.Pro317Ser | |
| NM_001166290.1:c.688C>T | NP_001159762.1:p.Pro230Ser | |
| XM_006718226.2:c.688C>T | XP_006718289.1:p.Pro230Ser | |
| XR_930867.1:n.1107C>T | ||
| XM_006718226.3:c.688C>T | XP_006718289.1:p.Pro230Ser | |
| XM_017017680.1:c.688C>T | XP_016873169.1:p.Pro230Ser | |
| NM_001166290.2:c.688C>T | NP_001159762.1:p.Pro230Ser | |
| NM_001377296.1:c.688C>T | NP_001364225.1:p.Pro230Ser | |
| NM_001377297.1:c.688C>T | NP_001364226.1:p.Pro230Ser | |
| NM_000525.4:c.949C>T MANE Select | NP_000516.3:p.Pro317Ser |