Linked Data
dbSNP Id:
rs786201019
gnomAD v2:
20-2447952-C-A
gnomAD v3:
20-2467306-C-A
gnomAD v4:
20-2467306-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2467306C>A , CM000682.2:g.2467306C>A | GRCh38 |
| NC_000020.10:g.2447952C>A , CM000682.1:g.2447952C>A | GRCh37 |
| NC_000020.9:g.2395952C>A | NCBI36 |
| NG_042057.1:g.8548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688423.1:n.553G>T | ||
| ENST00000688775.1:n.553G>T | ||
| ENST00000689440.1:n.264G>T | ||
| ENST00000690623.1:n.214G>T | ||
| ENST00000693393.1:n.555G>T | ||
| ENST00000381342.7:c.155+301G>T MANE Select | ENSP00000370746.3:n.155+301G>T | |
| ENST00000339610.10:c.155+301G>T | ENSP00000342305.7:n.155+301G>T | |
| ENST00000381342.6:c.155+301G>T | ENSP00000370746.2:n.155+301G>T | |
| ENST00000438552.6:c.155+301G>T | ENSP00000412566.2:n.155+301G>T | |
| ENST00000461548.1:c.*124G>T | ENSP00000456213.1:n.*124G>T | |
| ENST00000474384.2:c.165G>T | ENSP00000474579.1:p.Arg55Ser | |
| NM_003091.3:c.155+301G>T | NP_003082.1:n.155+301G>T | |
| NM_198216.1:c.155+301G>T | NP_937859.1:n.155+301G>T | |
| NM_003091.4:c.155+301G>T MANE Select | NP_003082.1:n.155+301G>T | |
| NM_198216.2:c.155+301G>T | NP_937859.1:n.155+301G>T |