Linked Data
ClinVar Variation Id:
159703
dbSNP Id:
rs114670807
ExAC:
17:16203203 G / T
gnomAD v2:
17-16203203-G-T
gnomAD v3:
17-16299889-G-T
gnomAD v4:
17-16299889-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16299889G>T , CM000679.2:g.16299889G>T | GRCh38 |
| NC_000017.10:g.16203203G>T , CM000679.1:g.16203203G>T | GRCh37 |
| NC_000017.9:g.16143928G>T | NCBI36 |
| NG_032651.1:g.87695G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.337G>T MANE Select | ENSP00000225609.5:p.Asp113Tyr | |
| ENST00000225609.9:c.337G>T | ENSP00000225609.5:p.Asp113Tyr | |
| ENST00000395844.8:c.337G>T | ENSP00000379185.3:p.Asp113Tyr | |
| ENST00000477745.5:n.335G>T | ||
| ENST00000498772.6:n.354G>T | ||
| ENST00000581006.5:c.337G>T | ENSP00000462432.1:p.Asp113Tyr | |
| ENST00000584797.5:c.337G>T | ENSP00000463540.1:p.Asp113Tyr | |
| ENST00000585034.5:c.237G>T | ENSP00000464424.1:p.Gly79= | |
| ENST00000607144.4:n.373G>T | ||
| NM_004278.3:c.337G>T | NP_004269.1:p.Asp113Tyr | |
| XM_011524080.1:c.337G>T | XP_011522382.1:p.Asp113Tyr | |
| XR_243571.2:n.355G>T | ||
| XR_429826.2:n.355G>T | ||
| XM_011524080.2:c.337G>T | XP_011522382.1:p.Asp113Tyr | |
| XM_017025349.1:c.337G>T | XP_016880838.1:p.Asp113Tyr | |
| XM_017025350.1:c.337G>T | XP_016880839.1:p.Asp113Tyr | |
| XM_017025351.1:c.337G>T | XP_016880840.1:p.Asp113Tyr | |
| XM_017025352.1:c.337G>T | XP_016880841.1:p.Asp113Tyr | |
| XM_017025353.1:c.337G>T | XP_016880842.1:p.Asp113Tyr | |
| XM_017025354.1:c.337G>T | XP_016880843.1:p.Asp113Tyr | |
| XM_017025355.1:c.337G>T | XP_016880844.1:p.Asp113Tyr | |
| XM_017025356.1:c.337G>T | XP_016880845.1:p.Asp113Tyr | |
| NM_004278.4:c.337G>T MANE Select | NP_004269.1:p.Asp113Tyr |