Linked Data
dbSNP Id:
rs757485878
ExAC:
2:145147302 A / T
gnomAD v2:
2-145147302-A-T
gnomAD v4:
2-144389735-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389735A>T , CM000664.2:g.144389735A>T | GRCh38 |
| NC_000002.11:g.145147302A>T , CM000664.1:g.145147302A>T | GRCh37 |
| NC_000002.10:g.144863772A>T | NCBI36 |
| NG_016431.1:g.135657T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3210T>A | ENSP00000508434.1:n.*3210T>A | |
| ENST00000440875.6:c.2584T>A | ENSP00000475553.3:p.Tyr862Asn | |
| ENST00000627532.3:c.3361T>A MANE Select | ENSP00000487174.1:p.Tyr1121Asn | |
| ENST00000636026.2:c.3249T>A | ENSP00000490776.1:p.Gly1083= | |
| ENST00000636179.1:n.3330T>A | ||
| ENST00000636413.1:c.3025T>A | ENSP00000490508.1:p.Tyr1009Asn | |
| ENST00000636471.1:c.3436T>A | ENSP00000490317.1:p.Tyr1146Asn | |
| ENST00000636732.2:c.*3078T>A | ENSP00000490175.1:n.*3078T>A | |
| ENST00000636820.1:n.3461T>A | ||
| ENST00000637045.1:c.3025T>A | ENSP00000490141.1:p.Tyr1009Asn | |
| ENST00000637304.1:c.3025T>A | ENSP00000490872.1:p.Tyr1009Asn | |
| ENST00000638007.1:c.3025T>A | ENSP00000490723.1:p.Tyr1009Asn | |
| ENST00000638087.1:c.3025T>A | ENSP00000490673.1:p.Tyr1009Asn | |
| ENST00000638128.1:c.2584T>A | ENSP00000490934.1:p.Tyr862Asn | |
| ENST00000639389.1:c.151+6677T>A | ENSP00000492572.1:n.151+6677T>A | |
| ENST00000647488.1:c.581T>A | ENSP00000494820.1:n.581T>A | |
| ENST00000675069.1:c.892T>A | ENSP00000502467.1:p.Tyr298Asn | |
| ENST00000303660.8:c.3358T>A | ENSP00000302501.4:p.Tyr1120Asn | |
| ENST00000409487.7:c.3361T>A | ENSP00000386854.2:p.Tyr1121Asn | |
| ENST00000419938.5:c.656-853T>A | ENSP00000394777.2:n.656-853T>A | |
| ENST00000539609.7:c.3289T>A | ENSP00000443792.2:p.Tyr1097Asn | |
| ENST00000558170.6:c.3361T>A | ENSP00000454157.1:p.Tyr1121Asn | |
| ENST00000627532.2:c.3361T>A | ENSP00000487174.1:p.Tyr1121Asn | |
| NM_001171653.1:c.3289T>A | NP_001165124.1:p.Tyr1097Asn | |
| NM_014795.3:c.3361T>A | NP_055610.1:p.Tyr1121Asn | |
| XM_006712881.2:c.3361T>A | XP_006712944.1:p.Tyr1121Asn | |
| XM_006712882.2:c.3361T>A | XP_006712945.1:p.Tyr1121Asn | |
| XM_011512231.1:c.3352T>A | XP_011510533.1:p.Tyr1118Asn | |
| XM_011512232.1:c.3340T>A | XP_011510534.1:p.Tyr1114Asn | |
| NM_014795.4:c.3361T>A MANE Select | NP_055610.1:p.Tyr1121Asn | |
| NM_001171653.2:c.3289T>A | NP_001165124.1:p.Tyr1097Asn |