Linked Data
dbSNP Id:
rs761591592
ExAC:
3:49064172 T / C
gnomAD v2:
3-49064172-T-C
gnomAD v4:
3-49026739-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026739T>C , CM000665.2:g.49026739T>C | GRCh38 |
| NC_000003.11:g.49064172T>C , CM000665.1:g.49064172T>C | GRCh37 |
| NC_000003.10:g.49039176T>C | NCBI36 |
| NG_012091.1:g.7704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2807A>G | ENSP00000515567.1:p.Asp936Gly | |
| ENST00000703937.1:c.*1868A>G | ENSP00000515568.1:n.*1868A>G | |
| ENST00000326739.9:c.767A>G MANE Select | ENSP00000321584.4:p.Asp256Gly | |
| ENST00000429182.6:c.767A>G | ENSP00000393525.2:p.Asp256Gly | |
| ENST00000442157.2:c.692A>G | ENSP00000403502.2:p.Asp231Gly | |
| ENST00000462980.2:n.1282A>G | ||
| ENST00000472328.2:n.833A>G | ||
| ENST00000491610.2:n.727A>G | ||
| ENST00000676607.1:n.1063A>G | ||
| ENST00000676627.1:n.1497A>G | ||
| ENST00000676708.1:n.2047A>G | ||
| ENST00000676864.1:n.1916A>G | ||
| ENST00000677010.1:c.803A>G | ENSP00000503089.1:p.Asp268Gly | |
| ENST00000677108.1:n.2673A>G | ||
| ENST00000677168.1:n.1239A>G | ||
| ENST00000677185.1:n.1330A>G | ||
| ENST00000677205.1:n.1551A>G | ||
| ENST00000677344.1:n.2041A>G | ||
| ENST00000677480.1:c.*444A>G | ENSP00000504378.1:n.*444A>G | |
| ENST00000677519.1:n.1477A>G | ||
| ENST00000677593.1:n.1323A>G | ||
| ENST00000677740.1:n.2272A>G | ||
| ENST00000677991.1:n.1940A>G | ||
| ENST00000678001.1:n.1260A>G | ||
| ENST00000678085.1:n.1323A>G | ||
| ENST00000678177.1:n.2616A>G | ||
| ENST00000678603.1:n.1845A>G | ||
| ENST00000678724.1:c.692A>G | ENSP00000503874.1:p.Asp231Gly | |
| ENST00000678920.1:n.925A>G | ||
| ENST00000679019.1:n.1537A>G | ||
| ENST00000679117.1:c.*582A>G | ENSP00000503240.1:n.*582A>G | |
| ENST00000679339.1:n.1608A>G | ||
| ENST00000326739.8:c.767A>G | ENSP00000321584.4:p.Asp256Gly | |
| ENST00000429182.5:c.561A>G | ||
| ENST00000442157.1:c.692A>G | ENSP00000403502.1:p.Asp231Gly | |
| ENST00000462980.1:n.669A>G | ||
| ENST00000491610.1:n.727A>G | ||
| NM_000884.2:c.767A>G | NP_000875.2:p.Asp256Gly | |
| XM_006713128.2:c.977A>G | XP_006713191.1:p.Asp326Gly | |
| XM_006713128.3:c.977A>G | XP_006713191.1:p.Asp326Gly | |
| XM_017006349.1:c.902A>G | XP_016861838.1:p.Asp301Gly | |
| XM_017006350.1:c.902A>G | XP_016861839.1:p.Asp301Gly | |
| NM_000884.3:c.767A>G MANE Select | NP_000875.2:p.Asp256Gly |