Linked Data
ClinVar Variation Id:
969449
ClinVar RCV Id:
RCV001244802
dbSNP Id:
rs368802852
ExAC:
17:27064442 G / A
gnomAD v2:
17-27064442-G-A
gnomAD v3:
17-28737424-G-A
gnomAD v4:
17-28737424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28737424G>A , CM000679.2:g.28737424G>A | GRCh38 |
| NC_000017.10:g.27064442G>A , CM000679.1:g.27064442G>A | GRCh37 |
| NC_000017.9:g.24088569G>A | NCBI36 |
| NG_012263.1:g.13611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.737G>A MANE Select | ENSP00000268766.6:p.Arg246Gln | |
| ENST00000268766.10:c.737G>A | ENSP00000268766.6:p.Arg246Gln | |
| ENST00000543014.1:c.737G>A | ENSP00000465859.1:p.Arg246Gln | |
| ENST00000592510.1:c.213G>A | ||
| NM_178170.2:c.737G>A | NP_835464.1:p.Arg246Gln | |
| XM_011524638.1:c.809G>A | XP_011522940.1:p.Arg270Gln | |
| XM_011524639.1:c.737G>A | XP_011522941.1:p.Arg246Gln | |
| XM_011524640.1:c.809G>A | XP_011522942.1:p.Arg270Gln | |
| XM_011524641.1:c.620G>A | XP_011522943.1:p.Arg207Gln | |
| XM_011524642.1:c.620G>A | XP_011522944.1:p.Arg207Gln | |
| XM_011524643.1:c.620G>A | XP_011522945.1:p.Arg207Gln | |
| XM_011524644.1:c.443G>A | XP_011522946.1:p.Arg148Gln | |
| XM_011524645.1:c.809G>A | XP_011522947.1:p.Arg270Gln | |
| XR_934448.1:n.941G>A | ||
| NM_178170.3:c.737G>A MANE Select | NP_835464.1:p.Arg246Gln | |
| XM_011524638.3:c.809G>A | XP_011522940.1:p.Arg270Gln | |
| XM_011524640.3:c.809G>A | XP_011522942.1:p.Arg270Gln | |
| XM_017024499.2:c.737G>A | XP_016879988.1:p.Arg246Gln | |
| XM_017024500.2:c.620G>A | XP_016879989.1:p.Arg207Gln | |
| XM_017024501.1:c.809G>A | XP_016879990.1:p.Arg270Gln | |
| XR_001752497.2:n.941G>A |