Linked Data
ClinVar Variation Id:
161488
ClinVar RCV Id:
RCV000149022
dbSNP Id:
rs193920843
ExAC:
19:16910905 A / G
gnomAD v2:
19-16910905-A-G
gnomAD v3:
19-16800094-A-G
gnomAD v4:
19-16800094-A-G
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16800094A>G , CM000681.2:g.16800094A>G | GRCh38 |
| NC_000019.9:g.16910905A>G , CM000681.1:g.16910905A>G | GRCh37 |
| NC_000019.8:g.16771905A>G | NCBI36 |
| NG_052795.1:g.85569A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524140.7:c.3668A>G MANE Select | ENSP00000428579.2:p.Asn1223Ser | |
| ENST00000646016.2:c.*3481A>G | ENSP00000496092.2:n.*3481A>G | |
| ENST00000673671.1:n.4094A>G | ||
| ENST00000673803.1:c.3668A>G | ENSP00000501265.1:p.Asn1223Ser | |
| ENST00000674103.1:c.824A>G | ||
| ENST00000379808.7:c.3668A>G | ENSP00000369136.3:p.Asn1223Ser | |
| ENST00000438489.6:c.*3504A>G | ENSP00000400248.2:n.*3504A>G | |
| ENST00000518676.5:c.*3557A>G | ENSP00000428224.1:n.*3557A>G | |
| ENST00000524140.6:c.3668A>G | ENSP00000428579.2:p.Asn1223Ser | |
| ENST00000549814.5:c.3542A>G | ENSP00000447548.1:p.Asn1181Ser | |
| ENST00000552788.1:c.3668A>G | ENSP00000447224.1:p.Asn1223Ser | |
| NM_001007525.3:c.3668A>G | NP_001007526.3:p.Asn1223Ser | |
| NM_001290355.1:c.3263A>G | NP_001277284.1:p.Asn1088Ser | |
| XM_011527929.1:c.3668A>G | XP_011526231.1:p.Asn1223Ser | |
| XM_011527930.1:c.3668A>G | XP_011526232.1:p.Asn1223Ser | |
| XM_011527931.1:c.3668A>G | XP_011526233.1:p.Asn1223Ser | |
| XM_011527932.1:c.3668A>G | XP_011526234.1:p.Asn1223Ser | |
| XM_011527933.1:c.3050A>G | XP_011526235.1:p.Asn1017Ser | |
| XM_011527934.1:c.2354A>G | XP_011526236.1:p.Asn785Ser | |
| NM_001007525.4:c.3668A>G | NP_001007526.3:p.Asn1223Ser | |
| NM_001290355.2:c.3263A>G | NP_001277284.1:p.Asn1088Ser | |
| NM_001347994.1:c.3050A>G | NP_001334923.1:p.Asn1017Ser | |
| XM_011527930.2:c.3668A>G | XP_011526232.1:p.Asn1223Ser | |
| XM_011527931.2:c.3668A>G | XP_011526233.1:p.Asn1223Ser | |
| XM_017026669.1:c.3050A>G | XP_016882158.1:p.Asn1017Ser | |
| XM_024451466.1:c.3668A>G | XP_024307234.1:p.Asn1223Ser | |
| XM_024451467.1:c.3668A>G | XP_024307235.1:p.Asn1223Ser | |
| NM_001007525.5:c.3668A>G MANE Select | NP_001007526.3:p.Asn1223Ser | |
| NM_001290355.3:c.3263A>G | NP_001277284.1:p.Asn1088Ser |