Linked Data
ClinVar Variation Id:
21195
ClinVar RCV Id:
RCV000020346
dbSNP Id:
rs193929333
PubMed:
PMID:20301620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387989A>C , CM000673.2:g.17387989A>C | GRCh38 |
| NC_000011.9:g.17409536A>C , CM000673.1:g.17409536A>C | GRCh37 |
| NC_000011.8:g.17366112A>C | NCBI36 |
| NG_012446.1:g.5671T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-126T>G | ENSP00000436479.2:n.-126T>G | |
| ENST00000682350.1:c.-16-143T>G | ENSP00000508090.1:n.-16-143T>G | |
| ENST00000682764.1:c.-16-143T>G | ENSP00000506780.1:n.-16-143T>G | |
| ENST00000339994.5:c.103T>G MANE Select | ENSP00000345708.4:p.Phe35Val | |
| ENST00000339994.4:c.103T>G | ENSP00000345708.4:p.Phe35Val | |
| ENST00000526912.1:c.-17+29T>G | ENSP00000432729.1:n.-17+29T>G | |
| ENST00000528731.1:c.-16-143T>G | ENSP00000434755.1:n.-16-143T>G | |
| ENST00000528992.1:c.120T>G | ||
| NM_000525.3:c.103T>G | NP_000516.3:p.Phe35Val | |
| NM_001166290.1:c.-16-143T>G | NP_001159762.1:n.-16-143T>G | |
| XM_006718226.2:c.-16-143T>G | XP_006718289.1:n.-16-143T>G | |
| XR_930867.1:n.261T>G | ||
| XM_006718226.3:c.-16-143T>G | XP_006718289.1:n.-16-143T>G | |
| XM_017017680.1:c.-16-143T>G | XP_016873169.1:n.-16-143T>G | |
| NM_001166290.2:c.-16-143T>G | NP_001159762.1:n.-16-143T>G | |
| NM_001377296.1:c.-17+29T>G | NP_001364225.1:n.-17+29T>G | |
| NM_001377297.1:c.-16-143T>G | NP_001364226.1:n.-16-143T>G | |
| NM_000525.4:c.103T>G MANE Select | NP_000516.3:p.Phe35Val |