Linked Data
dbSNP Id:
rs1443983415
gnomAD v2:
7-44186150-C-T
gnomAD v3:
7-44146551-C-T
gnomAD v4:
7-44146551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146551C>T , CM000669.2:g.44146551C>T | GRCh38 |
| NC_000007.13:g.44186150C>T , CM000669.1:g.44186150C>T | GRCh37 |
| NC_000007.12:g.44152675C>T | NCBI36 |
| NG_008847.1:g.47873G>A | |
| NG_008847.2:g.56620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*929G>A | ENSP00000379142.4:n.*929G>A | |
| ENST00000616242.5:c.*51G>A | ENSP00000482149.2:n.*51G>A | |
| ENST00000683378.1:n.157G>A | ||
| ENST00000345378.7:c.934G>A | ENSP00000223366.2:p.Asp312Asn | |
| ENST00000403799.8:c.931G>A MANE Select | ENSP00000384247.3:p.Asp311Asn | |
| ENST00000671824.1:c.994G>A | ENSP00000500264.1:p.Asp332Asn | |
| ENST00000673284.1:c.931G>A | ENSP00000499852.1:p.Asp311Asn | |
| ENST00000345378.6:c.934G>A | ENSP00000223366.2:p.Asp312Asn | |
| ENST00000395796.7:c.928G>A | ENSP00000379142.3:p.Asp310Asn | |
| ENST00000403799.7:c.931G>A | ENSP00000384247.3:p.Asp311Asn | |
| ENST00000437084.1:c.880G>A | ENSP00000402840.1:p.Asp294Asn | |
| ENST00000473353.1:n.229G>A | ||
| ENST00000616242.4:c.928G>A | ENSP00000482149.1:p.Asp310Asn | |
| NM_000162.3:c.931G>A | NP_000153.1:p.Asp311Asn | |
| NM_033507.1:c.934G>A | NP_277042.1:p.Asp312Asn | |
| NM_033508.1:c.928G>A | NP_277043.1:p.Asp310Asn | |
| NM_000162.4:c.931G>A | NP_000153.1:p.Asp311Asn | |
| NM_001354800.1:c.931G>A | NP_001341729.1:p.Asp311Asn | |
| NM_001354801.1:c.8+68G>A | NP_001341730.1:n.8+68G>A | |
| NM_033507.2:c.934G>A | NP_277042.1:p.Asp312Asn | |
| NM_033508.2:c.928G>A | NP_277043.1:p.Asp310Asn | |
| NM_000162.5:c.931G>A MANE Select | NP_000153.1:p.Asp311Asn | |
| NM_033507.3:c.934G>A | NP_277042.1:p.Asp312Asn | |
| NM_033508.3:c.928G>A | NP_277043.1:p.Asp310Asn |