Linked Data
ClinVar Variation Id:
539140
dbSNP Id:
rs780247729
ExAC:
17:27064755 G / T
gnomAD v2:
17-27064755-G-T
gnomAD v3:
17-28737737-G-T
gnomAD v4:
17-28737737-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28737737G>T , CM000679.2:g.28737737G>T | GRCh38 |
| NC_000017.10:g.27064755G>T , CM000679.1:g.27064755G>T | GRCh37 |
| NC_000017.9:g.24088882G>T | NCBI36 |
| NG_012263.1:g.13924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.889+1G>T MANE Select | ENSP00000268766.6:n.889+1G>T | |
| ENST00000268766.10:c.889+1G>T | ENSP00000268766.6:n.889+1G>T | |
| ENST00000543014.1:c.1049+1G>T | ENSP00000465859.1:n.1049+1G>T | |
| ENST00000592510.1:c.449+1G>T | ||
| NM_178170.2:c.889+1G>T | NP_835464.1:n.889+1G>T | |
| XM_011524638.1:c.1000+1G>T | XP_011522940.1:n.1000+1G>T | |
| XM_011524639.1:c.973+1G>T | XP_011522941.1:n.973+1G>T | |
| XM_011524640.1:c.961+1G>T | XP_011522942.1:n.961+1G>T | |
| XM_011524641.1:c.856+1G>T | XP_011522943.1:n.856+1G>T | |
| XM_011524642.1:c.856+1G>T | XP_011522944.1:n.856+1G>T | |
| XM_011524643.1:c.856+1G>T | XP_011522945.1:n.856+1G>T | |
| XM_011524644.1:c.679+1G>T | XP_011522946.1:n.679+1G>T | |
| XM_011524645.1:c.1046G>T | XP_011522947.1:p.Gly349Val | |
| XR_934448.1:n.1177+1G>T | ||
| NM_178170.3:c.889+1G>T MANE Select | NP_835464.1:n.889+1G>T | |
| XM_011524638.3:c.1000+1G>T | XP_011522940.1:n.1000+1G>T | |
| XM_011524640.3:c.961+1G>T | XP_011522942.1:n.961+1G>T | |
| XM_017024499.2:c.928+1G>T | XP_016879988.1:n.928+1G>T | |
| XM_017024500.2:c.811+1G>T | XP_016879989.1:n.811+1G>T | |
| XM_017024501.1:c.1121+1G>T | XP_016879990.1:n.1121+1G>T | |
| XR_001752497.2:n.1132+1G>T |