Linked Data
ClinVar Variation Id:
3118214
ClinVar RCV Id:
RCV004412595
dbSNP Id:
rs745718457
ExAC:
10:88476381 G / A
gnomAD v2:
10-88476381-G-A
gnomAD v3:
10-86716624-G-A
gnomAD v4:
10-86716624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86716624G>A , CM000672.2:g.86716624G>A | GRCh38 |
| NC_000010.10:g.88476381G>A , CM000672.1:g.88476381G>A | GRCh37 |
| NC_000010.9:g.88466361G>A | NCBI36 |
| NG_008876.1:g.53061G>A , LRG_385:g.53061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687154.1:n.515-2103G>A | ||
| ENST00000688001.1:c.1340G>A | ENSP00000508987.1:p.Ser447Asn | |
| ENST00000689296.1:c.1340G>A | ENSP00000510609.1:p.Ser447Asn | |
| ENST00000689740.1:c.1388G>A | ENSP00000510300.1:p.Ser463Asn | |
| ENST00000693680.1:c.1388G>A | ENSP00000509539.1:p.Ser463Asn | |
| ENST00000361373.9:c.1529G>A MANE Select | ENSP00000355296.3:p.Ser510Asn | |
| ENST00000429277.7:c.1199G>A | ENSP00000401437.3:p.Ser400Asn | |
| ENST00000623056.4:c.1544G>A | ENSP00000485500.1:p.Ser515Asn | |
| ENST00000263066.10:c.1199G>A | ENSP00000263066.6:p.Ser400Asn | |
| ENST00000361373.8:c.1529G>A | ENSP00000355296.3:p.Ser510Asn | |
| ENST00000429277.6:c.1544G>A | ENSP00000401437.2:p.Ser515Asn | |
| ENST00000623056.3:c.1544G>A | ENSP00000485500.1:p.Ser515Asn | |
| NM_001080114.1:c.1199G>A | NP_001073583.1:p.Ser400Asn | |
| NM_001171610.1:c.1544G>A | NP_001165081.1:p.Ser515Asn | |
| NM_007078.2:c.1529G>A , LRG_385t1:c.1529G>A | NP_009009.1:p.Ser510Asn | |
| XM_005269464.3:c.1529G>A | XP_005269521.1:p.Ser510Asn | |
| XM_005269466.3:c.1340G>A | XP_005269523.1:p.Ser447Asn | |
| XM_011539184.1:c.1781G>A | XP_011537486.1:p.Ser594Asn | |
| XM_011539185.1:c.1781G>A | XP_011537487.1:p.Ser594Asn | |
| XM_011539186.1:c.1733G>A | XP_011537488.1:p.Ser578Asn | |
| XM_011539187.1:c.1592G>A | XP_011537489.1:p.Ser531Asn | |
| XM_011539188.1:c.1577G>A | XP_011537490.1:p.Ser526Asn | |
| XM_011539189.1:c.1436G>A | XP_011537491.1:p.Ser479Asn | |
| XM_011539190.1:c.1388G>A | XP_011537492.1:p.Ser463Asn | |
| XM_011539191.1:c.1247G>A | XP_011537493.1:p.Ser416Asn | |
| XM_011539192.1:c.1232G>A | XP_011537494.1:p.Ser411Asn | |
| XM_011539193.1:c.737G>A | XP_011537495.1:p.Ser246Asn | |
| XM_011539194.1:c.548G>A | XP_011537496.1:p.Ser183Asn | |
| XM_005269464.4:c.1529G>A | XP_005269521.1:p.Ser510Asn | |
| XM_005269466.4:c.1340G>A | XP_005269523.1:p.Ser447Asn | |
| XM_011539184.2:c.1781G>A | XP_011537486.1:p.Ser594Asn | |
| XM_011539185.2:c.1781G>A | XP_011537487.1:p.Ser594Asn | |
| XM_011539186.2:c.1733G>A | XP_011537488.1:p.Ser578Asn | |
| XM_011539187.2:c.1592G>A | XP_011537489.1:p.Ser531Asn | |
| XM_011539188.2:c.1577G>A | XP_011537490.1:p.Ser526Asn | |
| XM_011539190.2:c.1388G>A | XP_011537492.1:p.Ser463Asn | |
| XM_011539191.2:c.1247G>A | XP_011537493.1:p.Ser416Asn | |
| XM_017015606.1:c.1577G>A | XP_016871095.1:p.Ser526Asn | |
| XM_017015607.1:c.737G>A | XP_016871096.1:p.Ser246Asn | |
| XM_024447785.1:c.1436G>A | XP_024303553.1:p.Ser479Asn | |
| XM_024447786.1:c.1199G>A | XP_024303554.1:p.Ser400Asn | |
| NM_001080114.2:c.1199G>A | NP_001073583.1:p.Ser400Asn | |
| NM_001171610.2:c.1544G>A | NP_001165081.1:p.Ser515Asn | |
| NM_001368064.1:c.1340G>A | NP_001354993.1:p.Ser447Asn | |
| NM_001368065.1:c.1340G>A | NP_001354994.1:p.Ser447Asn | |
| NM_001368066.1:c.1388G>A | NP_001354995.1:p.Ser463Asn | |
| NM_007078.3:c.1529G>A MANE Select | NP_009009.1:p.Ser510Asn |