Linked Data
ClinVar Variation Id:
135330
dbSNP Id:
rs146534657
ExAC:
6:138195991 A / G
gnomAD v2:
6-138195991-A-G
gnomAD v3:
6-137874854-A-G
gnomAD v4:
6-137874854-A-G
COSMIC:
COSM36249
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137874854A>G , CM000668.2:g.137874854A>G | GRCh38 |
| NC_000006.11:g.138195991A>G , CM000668.1:g.138195991A>G | GRCh37 |
| NC_000006.10:g.138237684A>G | NCBI36 |
| NG_032761.1:g.12411A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.305A>G | ENSP00000401562.2:p.Asn102Ser | |
| ENST00000711061.1:c.*28A>G | ENSP00000518561.1:n.*28A>G | |
| ENST00000421450.2:c.305A>G | ENSP00000393577.2:p.Asn102Ser | |
| ENST00000433680.2:c.305A>G | ENSP00000409845.2:p.Asn102Ser | |
| ENST00000485192.2:n.114A>G | ||
| ENST00000698329.1:n.494A>G | ||
| ENST00000698330.1:n.295+3332A>G | ||
| ENST00000612899.5:c.305A>G MANE Select | ENSP00000481570.1:p.Asn102Ser | |
| ENST00000237289.8:c.305A>G | ENSP00000237289.4:p.Asn102Ser | |
| ENST00000420009.5:c.305A>G | ENSP00000401562.1:p.Asn102Ser | |
| ENST00000612899.4:c.305A>G | ENSP00000481570.1:p.Asn102Ser | |
| ENST00000614035.4:c.305A>G | ENSP00000481122.2:p.Asn102Ser | |
| ENST00000615468.4:c.305A>G | ENSP00000479556.1:p.Asn102Ser | |
| ENST00000619035.4:c.305A>G | ENSP00000478438.1:p.Asn102Ser | |
| ENST00000620204.3:c.305A>G | ENSP00000481454.1:p.Asn102Ser | |
| ENST00000621150.3:c.305A>G | ENSP00000484332.2:p.Asn102Ser | |
| NM_001270507.1:c.305A>G | NP_001257436.1:p.Asn102Ser | |
| NM_001270508.1:c.305A>G | NP_001257437.1:p.Asn102Ser | |
| NM_006290.3:c.305A>G | NP_006281.1:p.Asn102Ser | |
| XM_005267119.1:c.305A>G | XP_005267176.1:p.Asn102Ser | |
| XM_006715555.1:c.-347A>G | XP_006715618.1:n.-347A>G | |
| XM_011536095.1:c.305A>G | XP_011534397.1:p.Asn102Ser | |
| XM_011536096.1:c.305A>G | XP_011534398.1:p.Asn102Ser | |
| XM_011536096.2:c.305A>G | XP_011534398.1:p.Asn102Ser | |
| XM_024446532.1:c.305A>G | XP_024302300.1:p.Asn102Ser | |
| XM_024446533.1:c.305A>G | XP_024302301.1:p.Asn102Ser | |
| NM_001270508.2:c.305A>G MANE Select | NP_001257437.1:p.Asn102Ser | |
| NM_001270507.2:c.305A>G | NP_001257436.1:p.Asn102Ser | |
| NM_006290.4:c.305A>G | NP_006281.1:p.Asn102Ser |