Linked Data
dbSNP Id:
rs931246127
gnomAD v2:
17-1399449-C-T
gnomAD v3:
17-1496155-C-T
gnomAD v4:
17-1496155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1496155C>T , CM000679.2:g.1496155C>T | GRCh38 |
| NC_000017.10:g.1399449C>T , CM000679.1:g.1399449C>T | GRCh37 |
| NC_000017.9:g.1346199C>T | NCBI36 |
| NG_029891.1:g.25734G>A | |
| NG_047063.1:g.1553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421807.7:c.1195G>A MANE Select | ENSP00000413937.2:p.Asp399Asn | |
| ENST00000320345.10:c.967G>A | ENSP00000318476.6:p.Asp323Asn | |
| ENST00000350761.9:c.*786G>A | ENSP00000254712.5:n.*786G>A | |
| ENST00000406424.8:c.967G>A | ENSP00000385177.4:p.Asp323Asn | |
| ENST00000421807.6:c.1195G>A | ENSP00000413937.2:p.Asp399Asn | |
| ENST00000487039.1:n.307G>A | ||
| ENST00000574561.1:c.463G>A | ||
| NM_001135642.1:c.967G>A | NP_001129114.1:p.Asp323Asn | |
| NM_016532.3:c.1195G>A | NP_057616.2:p.Asp399Asn | |
| NM_130766.2:c.967G>A | NP_570122.1:p.Asp323Asn | |
| XM_005256683.2:c.967G>A | XP_005256740.1:p.Asp323Asn | |
| XM_005256685.1:c.919G>A | XP_005256742.1:p.Asp307Asn | |
| XM_005256686.1:c.919G>A | XP_005256743.1:p.Asp307Asn | |
| XM_011523934.1:c.967G>A | XP_011522236.1:p.Asp323Asn | |
| XM_011523935.1:c.967G>A | XP_011522237.1:p.Asp323Asn | |
| XM_011523936.1:c.790G>A | XP_011522238.1:p.Asp264Asn | |
| XM_005256686.2:c.919G>A | XP_005256743.1:p.Asp307Asn | |
| XM_011523936.2:c.790G>A | XP_011522238.1:p.Asp264Asn | |
| XM_017024756.1:c.967G>A | XP_016880245.1:p.Asp323Asn | |
| XM_017024757.2:c.919G>A | XP_016880246.1:p.Asp307Asn | |
| XM_017024758.2:c.790G>A | XP_016880247.1:p.Asp264Asn | |
| XM_017024759.1:c.790G>A | XP_016880248.1:p.Asp264Asn | |
| XM_024450802.1:c.967G>A | XP_024306570.1:p.Asp323Asn | |
| NM_016532.4:c.1195G>A MANE Select | NP_057616.2:p.Asp399Asn | |
| NM_001135642.2:c.967G>A | NP_001129114.1:p.Asp323Asn | |
| NM_130766.3:c.967G>A | NP_570122.1:p.Asp323Asn |