Linked Data
ClinVar Variation Id:
16313
ClinVar RCV Id:
RCV000017706
dbSNP Id:
rs72549322
ExAC:
1:171072975 A / G
gnomAD v2:
1-171072975-A-G
gnomAD v3:
1-171103834-A-G
gnomAD v4:
1-171103834-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171103834A>G , CM000663.2:g.171103834A>G | GRCh38 |
| NC_000001.10:g.171072975A>G , CM000663.1:g.171072975A>G | GRCh37 |
| NC_000001.9:g.169339599A>G | NCBI36 |
| NG_012690.1:g.17958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.182A>G MANE Select | ENSP00000356729.4:p.Asn61Ser | |
| ENST00000367755.8:c.182A>G | ENSP00000356729.4:p.Asn61Ser | |
| ENST00000472784.5:c.*162A>G | ENSP00000476963.1:n.*162A>G | |
| ENST00000478457.1:n.495A>G | ||
| ENST00000479749.1:c.182A>G | ENSP00000477451.1:p.Asn61Ser | |
| NM_001002294.2:c.182A>G | NP_001002294.1:p.Asn61Ser | |
| NM_006894.5:c.182A>G | NP_008825.4:p.Asn61Ser | |
| XM_005245044.1:c.133-3841A>G | XP_005245101.1:n.133-3841A>G | |
| XM_011509345.1:c.122A>G | XP_011507647.1:p.Asn41Ser | |
| XM_011509346.1:c.122A>G | XP_011507648.1:p.Asn41Ser | |
| NM_001319173.1:c.122A>G | NP_001306102.1:p.Asn41Ser | |
| NM_001319174.1:c.133-3841A>G | NP_001306103.1:n.133-3841A>G | |
| XM_011509345.3:c.122A>G | XP_011507647.1:p.Asn41Ser | |
| NM_001002294.3:c.182A>G MANE Select | NP_001002294.1:p.Asn61Ser | |
| NM_001319173.2:c.122A>G | NP_001306102.1:p.Asn41Ser | |
| NM_001319174.2:c.133-3841A>G | NP_001306103.1:n.133-3841A>G | |
| NM_006894.6:c.182A>G | NP_008825.4:p.Asn61Ser |