Linked Data
dbSNP Id:
rs778409709
ExAC:
3:121712072 C / A
gnomAD v2:
3-121712072-C-A
gnomAD v4:
3-121993225-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993225C>A , CM000665.2:g.121993225C>A | GRCh38 |
| NC_000003.11:g.121712072C>A , CM000665.1:g.121712072C>A | GRCh37 |
| NC_000003.10:g.123194762C>A | NCBI36 |
| NG_031870.1:g.34056G>T | |
| NG_031870.2:g.72330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1524G>T MANE Select | ENSP00000345667.5:p.Lys508Asn | |
| ENST00000460554.2:n.1474G>T | ||
| ENST00000642615.1:c.*707G>T | ENSP00000495499.1:n.*707G>T | |
| ENST00000273691.7:c.1392G>T | ENSP00000273691.3:p.Lys464Asn | |
| ENST00000344209.9:c.1524G>T | ENSP00000345667.5:p.Lys508Asn | |
| ENST00000393631.5:c.1257G>T | ENSP00000377251.1:p.Lys419Asn | |
| ENST00000460554.1:n.1626G>T | ||
| ENST00000462014.1:c.1428G>T | ENSP00000419414.1:p.Lys476Asn | |
| NM_001199799.1:c.1524G>T | NP_001186728.1:p.Lys508Asn | |
| NM_001199800.1:c.1257G>T | NP_001186729.1:p.Lys419Asn | |
| NM_175924.3:c.1392G>T | NP_787120.1:p.Lys464Asn | |
| XM_005247389.3:c.1428G>T | XP_005247446.1:p.Lys476Asn | |
| XM_011512738.1:c.1524G>T | XP_011511040.1:p.Lys508Asn | |
| XM_011512739.1:c.987G>T | XP_011511041.1:p.Lys329Asn | |
| XM_005247389.4:c.1428G>T | XP_005247446.1:p.Lys476Asn | |
| XM_011512738.2:c.1524G>T | XP_011511040.1:p.Lys508Asn | |
| XM_011512739.2:c.987G>T | XP_011511041.1:p.Lys329Asn | |
| NM_001199799.2:c.1524G>T MANE Select | NP_001186728.1:p.Lys508Asn | |
| NM_001199800.2:c.1257G>T | NP_001186729.1:p.Lys419Asn | |
| NM_175924.4:c.1392G>T | NP_787120.1:p.Lys464Asn |