Linked Data
dbSNP Id:
rs10510468
gnomAD v2:
3-16938623-G-T
gnomAD v3:
3-16897125-G-T
gnomAD v4:
3-16897125-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16897125G>T , CM000665.2:g.16897125G>T | GRCh38 |
| NC_000003.11:g.16938623G>T , CM000665.1:g.16938623G>T | GRCh37 |
| NC_000003.10:g.16913627G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615277.5:c.327+11759G>T MANE Select | ENSP00000478458.1:n.327+11759G>T | |
| ENST00000460467.1:n.438+94037G>T | ||
| ENST00000615277.4:c.327+11759G>T | ENSP00000478458.1:n.327+11759G>T | |
| NM_001144382.1:c.327+11759G>T | NP_001137854.1:n.327+11759G>T | |
| XM_006713073.3:c.-2548G>T | XP_006713136.1:n.-2548G>T | |
| XM_017006022.2:c.327+11759G>T | XP_016861511.1:n.327+11759G>T | |
| XM_017006023.1:c.327+11759G>T | XP_016861512.1:n.327+11759G>T | |
| XM_017006024.2:c.327+11759G>T | XP_016861513.1:n.327+11759G>T | |
| XM_017006025.1:c.-2715G>T | XP_016861514.1:n.-2715G>T | |
| NM_001144382.2:c.327+11759G>T MANE Select | NP_001137854.1:n.327+11759G>T |