Linked Data
dbSNP Id:
rs1337665420
gnomAD v2:
17-47686148-A-T
gnomAD v3:
17-49608786-A-T
gnomAD v4:
17-49608786-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49608786A>T , CM000679.2:g.49608786A>T | GRCh38 |
| NC_000017.10:g.47686148A>T , CM000679.1:g.47686148A>T | GRCh37 |
| NC_000017.9:g.45041147A>T | NCBI36 |
| NG_041815.1:g.74378T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504102.6:c.659-857T>A MANE Select | ENSP00000425905.1:n.659-857T>A | |
| ENST00000509079.6:c.659-857T>A | ENSP00000426986.2:n.659-857T>A | |
| ENST00000513080.6:c.*508-857T>A | ENSP00000499333.1:n.*508-857T>A | |
| ENST00000514121.6:c.659-857T>A | ENSP00000424119.2:n.659-857T>A | |
| ENST00000659760.1:c.*221-857T>A | ENSP00000499367.1:n.*221-857T>A | |
| ENST00000665825.1:c.659-857T>A | ENSP00000499562.1:n.659-857T>A | |
| ENST00000671445.1:c.*508-857T>A | ENSP00000499537.1:n.*508-857T>A | |
| ENST00000347630.6:c.659-857T>A | ENSP00000240327.2:n.659-857T>A | |
| ENST00000393328.6:c.659-857T>A | ENSP00000377001.2:n.659-857T>A | |
| ENST00000503676.5:c.659-857T>A | ENSP00000420908.1:n.659-857T>A | |
| ENST00000504102.5:c.659-857T>A | ENSP00000425905.1:n.659-857T>A | |
| ENST00000504889.5:n.40-857T>A | ||
| ENST00000505581.5:c.659-857T>A | ENSP00000420960.1:n.659-857T>A | |
| ENST00000509079.5:c.659-857T>A | ENSP00000426986.1:n.659-857T>A | |
| ENST00000509869.5:c.601-857T>A | ||
| NM_001007226.1:c.659-857T>A | NP_001007227.1:n.659-857T>A | |
| NM_001007227.1:c.659-857T>A | NP_001007228.1:n.659-857T>A | |
| NM_001007228.1:c.659-857T>A | NP_001007229.1:n.659-857T>A | |
| NM_001007229.1:c.659-857T>A | NP_001007230.1:n.659-857T>A | |
| NM_001007230.1:c.659-857T>A | NP_001007231.1:n.659-857T>A | |
| NM_003563.3:c.659-857T>A | NP_003554.1:n.659-857T>A | |
| XM_005257723.3:c.659-857T>A | XP_005257780.1:n.659-857T>A | |
| XM_005257724.3:c.659-857T>A | XP_005257781.1:n.659-857T>A | |
| XM_005257723.4:c.659-857T>A | XP_005257780.1:n.659-857T>A | |
| XM_005257724.4:c.659-857T>A | XP_005257781.1:n.659-857T>A | |
| XM_017025204.1:c.659-857T>A | XP_016880693.1:n.659-857T>A | |
| XM_024450995.1:c.659-857T>A | XP_024306763.1:n.659-857T>A | |
| NM_001007228.2:c.659-857T>A MANE Select | NP_001007229.1:n.659-857T>A | |
| NM_001370730.1:c.659-857T>A | NP_001357659.1:n.659-857T>A | |
| NM_001370731.1:c.659-857T>A | NP_001357660.1:n.659-857T>A | |
| NM_001370732.1:c.659-857T>A | NP_001357661.1:n.659-857T>A |