Linked Data
dbSNP Id:
rs768154599
ExAC:
15:48527232 G / T
gnomAD v2:
15-48527232-G-T
gnomAD v3:
15-48235035-G-T
gnomAD v4:
15-48235035-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48235035G>T , CM000677.2:g.48235035G>T | GRCh38 |
| NC_000015.9:g.48527232G>T , CM000677.1:g.48527232G>T | GRCh37 |
| NC_000015.8:g.46314524G>T | NCBI36 |
| NG_021301.1:g.33735G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.1215+31G>T | ENSP00000508901.1:n.1215+31G>T | |
| ENST00000380993.8:c.1215+31G>T MANE Select | ENSP00000370381.3:n.1215+31G>T | |
| ENST00000646012.1:c.1353+31G>T | ENSP00000495813.1:n.1353+31G>T | |
| ENST00000647232.1:c.1215+31G>T | ENSP00000493875.1:n.1215+31G>T | |
| ENST00000647546.1:c.1215+31G>T | ENSP00000495332.1:n.1215+31G>T | |
| ENST00000330289.10:c.1215+31G>T | ENSP00000331550.6:n.1215+31G>T | |
| ENST00000380993.7:c.1215+31G>T | ENSP00000370381.3:n.1215+31G>T | |
| ENST00000396577.7:c.1215+31G>T | ENSP00000379822.3:n.1215+31G>T | |
| ENST00000558252.5:n.5338+31G>T | ||
| ENST00000558405.5:c.1215+31G>T | ENSP00000453409.1:n.1215+31G>T | |
| ENST00000558805.1:c.273G>T | ||
| ENST00000559641.5:c.654+31G>T | ENSP00000453230.1:n.654+31G>T | |
| ENST00000560692.5:n.5354+31G>T | ||
| NM_000338.2:c.1215+31G>T | NP_000329.2:n.1215+31G>T | |
| NM_001184832.1:c.1215+31G>T | NP_001171761.1:n.1215+31G>T | |
| XM_005254605.1:c.1311+31G>T | XP_005254662.1:n.1311+31G>T | |
| XM_005254606.1:c.1215+31G>T | XP_005254663.1:n.1215+31G>T | |
| XM_006720656.1:c.1311+31G>T | XP_006720719.1:n.1311+31G>T | |
| XR_931896.1:n.1527+31G>T | ||
| XM_005254606.2:c.1215+31G>T | XP_005254663.1:n.1215+31G>T | |
| NM_000338.3:c.1215+31G>T MANE Select | NP_000329.2:n.1215+31G>T | |
| NM_001184832.2:c.1215+31G>T | NP_001171761.1:n.1215+31G>T | |
| NM_001384136.1:c.1215+31G>T | NP_001371065.1:n.1215+31G>T |