Linked Data
dbSNP Id:
rs1914816
gnomAD v2:
15-76546933-G-A
gnomAD v3:
15-76254592-G-A
gnomAD v4:
15-76254592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76254592G>A , CM000677.2:g.76254592G>A | GRCh38 |
| NC_000015.9:g.76546933G>A , CM000677.1:g.76546933G>A | GRCh37 |
| NC_000015.8:g.74333988G>A | NCBI36 |
| NG_007077.2:g.61878C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559386.2:c.817-11325C>T | ENSP00000452777.2:n.817-11325C>T | |
| ENST00000560044.6:c.*811+19820C>T | ENSP00000452942.1:n.*811+19820C>T | |
| ENST00000560595.6:c.1035+19820C>T | ENSP00000453345.2:n.1035+19820C>T | |
| ENST00000565910.6:c.816+19820C>T | ENSP00000458001.2:n.816+19820C>T | |
| ENST00000685118.1:c.*811+19820C>T | ENSP00000509473.1:n.*811+19820C>T | |
| ENST00000685548.1:c.816+19820C>T | ENSP00000510343.1:n.816+19820C>T | |
| ENST00000685863.1:c.600+19820C>T | ENSP00000509361.1:n.600+19820C>T | |
| ENST00000687293.1:c.891+19820C>T | ENSP00000509928.1:n.891+19820C>T | |
| ENST00000687975.1:c.*692+19820C>T | ENSP00000508690.1:n.*692+19820C>T | |
| ENST00000688154.1:c.816+19820C>T | ENSP00000510637.1:n.816+19820C>T | |
| ENST00000688389.1:c.747+19820C>T | ENSP00000510491.1:n.747+19820C>T | |
| ENST00000688637.1:n.897+19820C>T | ||
| ENST00000688908.1:c.651+19820C>T | ENSP00000510242.1:n.651+19820C>T | |
| ENST00000689730.1:c.798+19820C>T | ENSP00000510006.1:n.798+19820C>T | |
| ENST00000689739.1:n.828+19820C>T | ||
| ENST00000690610.1:c.816+19820C>T | ENSP00000510473.1:n.816+19820C>T | |
| ENST00000691021.1:c.*811+19820C>T | ENSP00000510805.1:n.*811+19820C>T | |
| ENST00000691071.1:n.595+19820C>T | ||
| ENST00000691695.1:c.670-11325C>T | ENSP00000509402.1:n.670-11325C>T | |
| ENST00000692691.1:c.939+19820C>T | ENSP00000508808.1:n.939+19820C>T | |
| ENST00000693064.1:c.*791+19820C>T | ENSP00000510720.1:n.*791+19820C>T | |
| ENST00000557943.6:c.816+19820C>T MANE Select | ENSP00000452762.1:n.816+19820C>T | |
| ENST00000267950.12:c.*539+19820C>T | ENSP00000267950.8:n.*539+19820C>T | |
| ENST00000433983.6:c.669+19820C>T | ENSP00000399273.2:n.669+19820C>T | |
| ENST00000557943.5:c.816+19820C>T | ENSP00000452762.1:n.816+19820C>T | |
| ENST00000559075.5:n.840+19820C>T | ||
| ENST00000559602.5:c.504+19820C>T | ENSP00000452659.1:n.504+19820C>T | |
| ENST00000559973.5:c.526+19820C>T | ||
| ENST00000560044.5:c.*811+19820C>T | ENSP00000452942.1:n.*811+19820C>T | |
| ENST00000560595.5:c.747+19820C>T | ENSP00000453345.1:n.747+19820C>T | |
| ENST00000560726.5:c.36+19820C>T | ENSP00000453098.1:n.36+19820C>T | |
| ENST00000560816.5:n.376-9344C>T | ||
| ENST00000560899.5:c.36+19820C>T | ENSP00000453422.1:n.36+19820C>T | |
| NM_000126.3:c.816+19820C>T | NP_000117.1:n.816+19820C>T | |
| NM_001127716.1:c.669+19820C>T | NP_001121188.1:n.669+19820C>T | |
| XR_931766.1:n.871+19820C>T | ||
| XR_931766.3:n.897+19820C>T | ||
| NM_000126.4:c.816+19820C>T MANE Select | NP_000117.1:n.816+19820C>T | |
| NM_001127716.2:c.669+19820C>T | NP_001121188.1:n.669+19820C>T |