Linked Data
ClinVar Variation Id:
138089
dbSNP Id:
rs114726414
ExAC:
5:145515151 A / G
gnomAD v2:
5-145515151-A-G
gnomAD v3:
5-146135588-A-G
gnomAD v4:
5-146135588-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146135588A>G , CM000667.2:g.146135588A>G | GRCh38 |
| NC_000005.9:g.145515151A>G , CM000667.1:g.145515151A>G | GRCh37 |
| NC_000005.8:g.145495344A>G | NCBI36 |
| NG_042294.1:g.52144T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2212+13T>C MANE Select | ENSP00000377954.2:n.2212+13T>C | |
| ENST00000504323.6:n.2642+13T>C | ||
| ENST00000506231.6:n.2446+13T>C | ||
| ENST00000512412.2:n.2389+13T>C | ||
| ENST00000674158.1:c.1831+13T>C | ENSP00000501474.1:n.1831+13T>C | |
| ENST00000674170.1:c.*650+13T>C | ENSP00000501381.1:n.*650+13T>C | |
| ENST00000674174.1:c.2050+13T>C | ENSP00000501434.1:n.2050+13T>C | |
| ENST00000674181.1:c.550+13T>C | ||
| ENST00000674191.1:c.1756+13T>C | ENSP00000501478.1:n.1756+13T>C | |
| ENST00000674218.1:n.4999+13T>C | ||
| ENST00000674270.1:c.2074+13T>C | ENSP00000501365.1:n.2074+13T>C | |
| ENST00000674277.1:c.2050+13T>C | ENSP00000501510.1:n.2050+13T>C | |
| ENST00000674290.1:c.2176+13T>C | ENSP00000501435.1:n.2176+13T>C | |
| ENST00000674309.1:c.2212+13T>C | ENSP00000501400.1:n.2212+13T>C | |
| ENST00000674310.1:c.2212+13T>C | ENSP00000501486.1:n.2212+13T>C | |
| ENST00000674383.1:n.4865+13T>C | ||
| ENST00000674398.1:c.2212+13T>C | ENSP00000501476.1:n.2212+13T>C | |
| ENST00000674447.1:c.2131+13T>C | ENSP00000501376.1:n.2131+13T>C | |
| ENST00000674467.1:c.*134+13T>C | ENSP00000501351.1:n.*134+13T>C | |
| ENST00000674471.1:n.2480+13T>C | ||
| ENST00000674479.1:n.2389+13T>C | ||
| ENST00000274562.13:c.139+13T>C | ENSP00000274562.10:n.139+13T>C | |
| ENST00000394434.6:c.2212+13T>C | ENSP00000377954.2:n.2212+13T>C | |
| ENST00000510191.5:c.2050+13T>C | ENSP00000426005.1:n.2050+13T>C | |
| ENST00000512412.1:n.550+13T>C | ||
| NM_020117.9:c.2212+13T>C | NP_064502.9:n.2212+13T>C | |
| XM_011537655.1:c.2074+13T>C | XP_011535957.1:n.2074+13T>C | |
| XM_011537656.1:c.2050+13T>C | XP_011535958.1:n.2050+13T>C | |
| XM_011537657.1:c.1999+13T>C | XP_011535959.1:n.1999+13T>C | |
| NM_001317964.1:c.2074+13T>C | NP_001304893.1:n.2074+13T>C | |
| NM_001317965.1:c.2050+13T>C | NP_001304894.1:n.2050+13T>C | |
| NM_016460.3:c.2131+13T>C | NP_057544.2:n.2131+13T>C | |
| NM_020117.10:c.2212+13T>C | NP_064502.9:n.2212+13T>C | |
| XM_011537656.3:c.2050+13T>C | XP_011535958.1:n.2050+13T>C | |
| NM_020117.11:c.2212+13T>C MANE Select | NP_064502.9:n.2212+13T>C | |
| NM_001317964.2:c.2074+13T>C | NP_001304893.1:n.2074+13T>C | |
| NM_001317965.2:c.2050+13T>C | NP_001304894.1:n.2050+13T>C | |
| NM_016460.4:c.2131+13T>C | NP_057544.2:n.2131+13T>C |