Linked Data
dbSNP Id:
rs972848969
gnomAD v2:
15-48720369-G-T
gnomAD v3:
15-48428172-G-T
gnomAD v4:
15-48428172-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428172G>T , CM000677.2:g.48428172G>T | GRCh38 |
| NC_000015.9:g.48720369G>T , CM000677.1:g.48720369G>T | GRCh37 |
| NC_000015.8:g.46507661G>T | NCBI36 |
| NG_008805.2:g.222617C>A , LRG_778:g.222617C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6997+174C>A | ENSP00000453958.2:n.6997+174C>A | |
| ENST00000674301.2:c.*448+174C>A | ENSP00000501333.2:n.*448+174C>A | |
| ENST00000682170.1:n.780C>A | ||
| ENST00000682767.1:n.232+174C>A | ||
| ENST00000316623.10:c.6997+174C>A MANE Select | ENSP00000325527.5:n.6997+174C>A | |
| ENST00000674301.1:c.2101+174C>A | ENSP00000501333.1:n.2101+174C>A | |
| ENST00000316623.9:c.6997+174C>A | ENSP00000325527.5:n.6997+174C>A | |
| ENST00000559133.5:c.2304+174C>A | ||
| ENST00000560720.1:n.458C>A | ||
| NM_000138.4:c.6997+174C>A , LRG_778t1:c.6997+174C>A | NP_000129.3:n.6997+174C>A | |
| NM_000138.5:c.6997+174C>A MANE Select | NP_000129.3:n.6997+174C>A |