Linked Data
dbSNP Id:
rs772087615
ExAC:
3:49064060 T / A
gnomAD v2:
3-49064060-T-A
gnomAD v3:
3-49026627-T-A
gnomAD v4:
3-49026627-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026627T>A , CM000665.2:g.49026627T>A | GRCh38 |
| NC_000003.11:g.49064060T>A , CM000665.1:g.49064060T>A | GRCh37 |
| NC_000003.10:g.49039064T>A | NCBI36 |
| NG_012091.1:g.7816A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2860-18A>T | ENSP00000515567.1:n.2860-18A>T | |
| ENST00000703937.1:c.*1921-18A>T | ENSP00000515568.1:n.*1921-18A>T | |
| ENST00000326739.9:c.820-18A>T MANE Select | ENSP00000321584.4:n.820-18A>T | |
| ENST00000429182.6:c.820-18A>T | ENSP00000393525.2:n.820-18A>T | |
| ENST00000442157.2:c.745-18A>T | ENSP00000403502.2:n.745-18A>T | |
| ENST00000462980.2:n.1335-18A>T | ||
| ENST00000472328.2:n.886-18A>T | ||
| ENST00000491610.2:n.780-18A>T | ||
| ENST00000676607.1:n.1116-18A>T | ||
| ENST00000676627.1:n.1550-18A>T | ||
| ENST00000676708.1:n.2100-18A>T | ||
| ENST00000676864.1:n.1969-18A>T | ||
| ENST00000677010.1:c.856-30A>T | ENSP00000503089.1:n.856-30A>T | |
| ENST00000677108.1:n.2785A>T | ||
| ENST00000677168.1:n.1292-18A>T | ||
| ENST00000677185.1:n.1383-18A>T | ||
| ENST00000677205.1:n.1604-18A>T | ||
| ENST00000677344.1:n.2094-18A>T | ||
| ENST00000677480.1:c.*497-18A>T | ENSP00000504378.1:n.*497-18A>T | |
| ENST00000677519.1:n.1530-18A>T | ||
| ENST00000677593.1:n.1376-18A>T | ||
| ENST00000677740.1:n.2325-18A>T | ||
| ENST00000677991.1:n.1993-18A>T | ||
| ENST00000678001.1:n.1313-18A>T | ||
| ENST00000678085.1:n.1435A>T | ||
| ENST00000678177.1:n.2728A>T | ||
| ENST00000678603.1:n.1898-18A>T | ||
| ENST00000678724.1:c.745-18A>T | ENSP00000503874.1:n.745-18A>T | |
| ENST00000678920.1:n.978-18A>T | ||
| ENST00000679019.1:n.1649A>T | ||
| ENST00000679117.1:c.*635-18A>T | ENSP00000503240.1:n.*635-18A>T | |
| ENST00000679339.1:n.1661-18A>T | ||
| ENST00000326739.8:c.820-18A>T | ENSP00000321584.4:n.820-18A>T | |
| ENST00000429182.5:c.614-18A>T | ||
| ENST00000442157.1:c.745-18A>T | ENSP00000403502.1:n.745-18A>T | |
| ENST00000462980.1:n.722-18A>T | ||
| ENST00000491610.1:n.780-18A>T | ||
| NM_000884.2:c.820-18A>T | NP_000875.2:n.820-18A>T | |
| XM_006713128.2:c.1030-18A>T | XP_006713191.1:n.1030-18A>T | |
| XM_006713128.3:c.1030-18A>T | XP_006713191.1:n.1030-18A>T | |
| XM_017006349.1:c.955-18A>T | XP_016861838.1:n.955-18A>T | |
| XM_017006350.1:c.955-18A>T | XP_016861839.1:n.955-18A>T | |
| NM_000884.3:c.820-18A>T MANE Select | NP_000875.2:n.820-18A>T |