Linked Data
dbSNP Id:
rs17556665
gnomAD v2:
11-14098482-G-T
gnomAD v3:
11-14076935-G-T
gnomAD v4:
11-14076935-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14076935G>T , CM000673.2:g.14076935G>T | GRCh38 |
| NC_000011.9:g.14098482G>T , CM000673.1:g.14098482G>T | GRCh37 |
| NC_000011.8:g.14055058G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.553+1517G>T MANE Select | ENSP00000460236.1:n.553+1517G>T | |
| ENST00000576479.3:c.553+1517G>T | ENSP00000460236.1:n.553+1517G>T | |
| NM_006108.3:c.553+1517G>T | NP_006099.2:n.553+1517G>T | |
| NM_006108.4:c.553+1517G>T MANE Select | NP_006099.2:n.553+1517G>T |