Linked Data
dbSNP Id:
rs771291597
ExAC:
2:145156862 T / C
gnomAD v2:
2-145156862-T-C
gnomAD v3:
2-144399295-T-C
gnomAD v4:
2-144399295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399295T>C , CM000664.2:g.144399295T>C | GRCh38 |
| NC_000002.11:g.145156862T>C , CM000664.1:g.145156862T>C | GRCh37 |
| NC_000002.10:g.144873332T>C | NCBI36 |
| NG_016431.1:g.126097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1741A>G | ENSP00000508434.1:n.*1741A>G | |
| ENST00000440875.6:c.1115A>G | ENSP00000475553.3:p.Asn372Ser | |
| ENST00000627532.3:c.1892A>G MANE Select | ENSP00000487174.1:p.Asn631Ser | |
| ENST00000636026.2:c.1892A>G | ENSP00000490776.1:p.Asn631Ser | |
| ENST00000636179.1:n.1861A>G | ||
| ENST00000636413.1:c.1556A>G | ENSP00000490508.1:p.Asn519Ser | |
| ENST00000636471.1:c.1967A>G | ENSP00000490317.1:p.Asn656Ser | |
| ENST00000636732.2:c.*1609A>G | ENSP00000490175.1:n.*1609A>G | |
| ENST00000636820.1:n.1992A>G | ||
| ENST00000637045.1:c.1556A>G | ENSP00000490141.1:p.Asn519Ser | |
| ENST00000637304.1:c.1556A>G | ENSP00000490872.1:p.Asn519Ser | |
| ENST00000638007.1:c.1556A>G | ENSP00000490723.1:p.Asn519Ser | |
| ENST00000638087.1:c.1556A>G | ENSP00000490673.1:p.Asn519Ser | |
| ENST00000638128.1:c.1115A>G | ENSP00000490934.1:p.Asn372Ser | |
| ENST00000675069.1:c.-133-445A>G | ENSP00000502467.1:n.-133-445A>G | |
| ENST00000675145.1:n.2440A>G | ||
| ENST00000303660.8:c.1889A>G | ENSP00000302501.4:p.Asn630Ser | |
| ENST00000409487.7:c.1892A>G | ENSP00000386854.2:p.Asn631Ser | |
| ENST00000419938.5:c.655+1904A>G | ENSP00000394777.2:n.655+1904A>G | |
| ENST00000427902.5:c.1979A>G | ENSP00000395496.2:p.Asn660Ser | |
| ENST00000440875.5:c.1167+242A>G | ENSP00000475553.2:n.1167+242A>G | |
| ENST00000539609.7:c.1820A>G | ENSP00000443792.2:p.Asn607Ser | |
| ENST00000558170.6:c.1892A>G | ENSP00000454157.1:p.Asn631Ser | |
| ENST00000627532.2:c.1892A>G | ENSP00000487174.1:p.Asn631Ser | |
| NM_001171653.1:c.1820A>G | NP_001165124.1:p.Asn607Ser | |
| NM_014795.3:c.1892A>G | NP_055610.1:p.Asn631Ser | |
| XM_006712881.2:c.1892A>G | XP_006712944.1:p.Asn631Ser | |
| XM_006712882.2:c.1892A>G | XP_006712945.1:p.Asn631Ser | |
| XM_011512231.1:c.1883A>G | XP_011510533.1:p.Asn628Ser | |
| XM_011512232.1:c.1871A>G | XP_011510534.1:p.Asn624Ser | |
| NM_014795.4:c.1892A>G MANE Select | NP_055610.1:p.Asn631Ser | |
| NM_001171653.2:c.1820A>G | NP_001165124.1:p.Asn607Ser |