Linked Data
dbSNP Id:
rs2163870
gnomAD v2:
8-108377901-A-G
gnomAD v3:
8-107365673-A-G
gnomAD v4:
8-107365673-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.107365673A>G , CM000670.2:g.107365673A>G | GRCh38 |
| NC_000008.10:g.108377901A>G , CM000670.1:g.108377901A>G | GRCh37 |
| NC_000008.9:g.108447077A>G | NCBI36 |
| NG_029405.1:g.137354T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517746.6:c.298-18576T>C MANE Select | ENSP00000428340.1:n.298-18576T>C | |
| ENST00000297450.7:c.298-18576T>C | ENSP00000297450.3:n.298-18576T>C | |
| ENST00000517746.5:c.298-18576T>C | ENSP00000428340.1:n.298-18576T>C | |
| ENST00000520033.1:c.-24-18576T>C | ENSP00000428908.1:n.-24-18576T>C | |
| NM_001146.3:c.298-18576T>C | NP_001137.2:n.298-18576T>C | |
| NM_001146.4:c.298-18576T>C | NP_001137.2:n.298-18576T>C | |
| NM_001199859.1:c.298-18576T>C | NP_001186788.1:n.298-18576T>C | |
| NM_001199859.2:c.298-18576T>C | NP_001186788.1:n.298-18576T>C | |
| XR_928319.1:n.750-18576T>C | ||
| XR_928319.2:n.365-18576T>C | ||
| NM_001146.5:c.298-18576T>C MANE Select | NP_001137.2:n.298-18576T>C | |
| NM_001199859.3:c.298-18576T>C | NP_001186788.1:n.298-18576T>C |