Linked Data
ClinVar Variation Id:
288108
dbSNP Id:
rs757121012
ExAC:
19:10829067 A / G
gnomAD v2:
19-10829067-A-G
gnomAD v3:
19-10718391-A-G
gnomAD v4:
19-10718391-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10718391A>G , CM000681.2:g.10718391A>G | GRCh38 |
| NC_000019.9:g.10829067A>G , CM000681.1:g.10829067A>G | GRCh37 |
| NC_000019.8:g.10690067A>G | NCBI36 |
| NG_008792.1:g.5313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.337A>G | ||
| ENST00000682524.1:n.337A>G | ||
| ENST00000683738.1:n.337A>G | ||
| ENST00000355667.11:c.149A>G | ENSP00000347890.6:p.Asn50Ser | |
| ENST00000389253.9:c.149A>G MANE Select | ENSP00000373905.4:p.Asn50Ser | |
| ENST00000355667.10:c.149A>G | ENSP00000347890.6:p.Asn50Ser | |
| ENST00000359692.10:c.149A>G | ENSP00000352721.6:p.Asn50Ser | |
| ENST00000389253.8:c.149A>G | ENSP00000373905.3:p.Asn50Ser | |
| ENST00000408974.8:c.149A>G | ENSP00000386192.3:p.Asn50Ser | |
| ENST00000585892.5:c.149A>G | ENSP00000468734.1:p.Asn50Ser | |
| NM_001005360.2:c.149A>G | NP_001005360.1:p.Asn50Ser | |
| NM_001005361.2:c.149A>G | NP_001005361.1:p.Asn50Ser | |
| NM_001005362.2:c.149A>G | NP_001005362.1:p.Asn50Ser | |
| NM_001190716.1:c.149A>G | NP_001177645.1:p.Asn50Ser | |
| NM_004945.3:c.149A>G | NP_004936.2:p.Asn50Ser | |
| NM_001005361.3:c.149A>G MANE Select | NP_001005361.1:p.Asn50Ser | |
| NM_001190716.2:c.149A>G | NP_001177645.1:p.Asn50Ser | |
| NM_001005360.3:c.149A>G | NP_001005360.1:p.Asn50Ser | |
| NM_001005362.3:c.149A>G | NP_001005362.1:p.Asn50Ser | |
| NM_004945.4:c.149A>G | NP_004936.2:p.Asn50Ser |