Linked Data
dbSNP Id:
rs16942663
gnomAD v2:
15-45685703-C-T
gnomAD v3:
15-45393505-C-T
gnomAD v4:
15-45393505-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45393505C>T , CM000677.2:g.45393505C>T | GRCh38 |
| NC_000015.9:g.45685703C>T , CM000677.1:g.45685703C>T | GRCh37 |
| NC_000015.8:g.43472995C>T | NCBI36 |
| NG_011674.2:g.13813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.640+3417G>A | ||
| ENST00000527933.2:n.512+2662G>A | ||
| ENST00000560538.1:n.338+3417G>A | ||
| ENST00000561148.5:c.-319+3417G>A | ENSP00000453860.1:n.-319+3417G>A | |
| XM_011521450.1:c.31+3417G>A | XP_011519752.1:n.31+3417G>A | |
| NM_001321015.1:c.-395+3417G>A | NP_001307944.1:n.-395+3417G>A | |
| NM_001321015.2:c.-395+3417G>A | NP_001307944.1:n.-395+3417G>A |