Linked Data
dbSNP Id:
rs777537518
ExAC:
1:196712684 G / A
gnomAD v2:
1-196712684-G-A
gnomAD v4:
1-196743554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743554G>A , CM000663.2:g.196743554G>A | GRCh38 |
| NC_000001.10:g.196712684G>A , CM000663.1:g.196712684G>A | GRCh37 |
| NC_000001.9:g.194979307G>A | NCBI36 |
| NG_007259.1:g.96544G>A , LRG_47:g.96544G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4264G>A | ||
| ENST00000695970.1:c.3062G>A | ENSP00000512297.1:p.Ser1021Asn | |
| ENST00000695971.1:c.3215G>A | ENSP00000512298.1:p.Ser1072Asn | |
| ENST00000695972.1:c.*313G>A | ENSP00000512299.1:n.*313G>A | |
| ENST00000695973.1:c.*1600G>A | ENSP00000512300.1:n.*1600G>A | |
| ENST00000695974.1:c.3059G>A | ENSP00000512301.1:p.Ser1020Asn | |
| ENST00000695975.1:c.*1363G>A | ENSP00000512302.1:n.*1363G>A | |
| ENST00000695976.1:c.3047G>A | ENSP00000512303.1:p.Ser1016Asn | |
| ENST00000695981.1:c.3236G>A | ENSP00000512306.1:p.Ser1079Asn | |
| ENST00000695984.1:c.1244G>A | ENSP00000512309.1:p.Ser415Asn | |
| ENST00000695986.1:c.*2887G>A | ENSP00000512311.1:n.*2887G>A | |
| ENST00000696026.1:c.*1518G>A | ENSP00000512335.1:n.*1518G>A | |
| ENST00000696027.1:c.3230G>A | ENSP00000512336.1:p.Ser1077Asn | |
| ENST00000696028.1:c.3164G>A | ENSP00000512337.1:p.Ser1055Asn | |
| ENST00000696029.1:c.3230G>A | ENSP00000512338.1:p.Ser1077Asn | |
| ENST00000696031.1:c.*2754G>A | ENSP00000512340.1:n.*2754G>A | |
| ENST00000696032.1:c.3236G>A | ENSP00000512341.1:p.Ser1079Asn | |
| ENST00000696033.1:c.1160-36243G>A | ENSP00000512342.1:n.1160-36243G>A | |
| ENST00000367429.9:c.3236G>A MANE Select | ENSP00000356399.4:p.Ser1079Asn | |
| ENST00000367429.8:c.3236G>A | ENSP00000356399.4:p.Ser1079Asn | |
| ENST00000466229.5:n.6334G>A | ||
| NM_000186.3:c.3236G>A , LRG_47t1:c.3236G>A | NP_000177.2:p.Ser1079Asn | |
| XR_001737134.2:n.3422G>A | ||
| NM_000186.4:c.3236G>A MANE Select | NP_000177.2:p.Ser1079Asn |