Linked Data
ClinVar Variation Id:
211770
dbSNP Id:
rs797045839
gnomAD v2:
15-28090193-C-T
gnomAD v3:
15-27845047-C-T
gnomAD v4:
15-27845047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27845047C>T , CM000677.2:g.27845047C>T | GRCh38 |
| NC_000015.9:g.28090193C>T , CM000677.1:g.28090193C>T | GRCh37 |
| NC_000015.8:g.25763788C>T | NCBI36 |
| NG_009846.1:g.259266G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.2344G>A MANE Select | ENSP00000346659.3:p.Gly782Arg | |
| ENST00000353809.9:c.2272G>A | ENSP00000261276.8:p.Gly758Arg | |
| ENST00000354638.7:c.2344G>A | ENSP00000346659.3:p.Gly782Arg | |
| NM_000275.2:c.2344G>A | NP_000266.2:p.Gly782Arg | |
| NM_001300984.1:c.2272G>A | NP_001287913.1:p.Gly758Arg | |
| XM_011521639.1:c.2410G>A | XP_011519941.1:p.Gly804Arg | |
| XM_011521640.1:c.2386G>A | XP_011519942.1:p.Gly796Arg | |
| XM_011521641.1:c.2368G>A | XP_011519943.1:p.Gly790Arg | |
| XM_011521642.1:c.2338G>A | XP_011519944.1:p.Gly780Arg | |
| XM_011521643.1:c.2296G>A | XP_011519945.1:p.Gly766Arg | |
| XM_011521644.1:c.2272G>A | XP_011519946.1:p.Gly758Arg | |
| XM_011521645.1:c.2203G>A | XP_011519947.1:p.Gly735Arg | |
| XM_011521640.2:c.2386G>A | XP_011519942.1:p.Gly796Arg | |
| XM_017022255.1:c.2410G>A | XP_016877744.1:p.Gly804Arg | |
| XM_017022256.1:c.2368G>A | XP_016877745.1:p.Gly790Arg | |
| XM_017022257.1:c.2338G>A | XP_016877746.1:p.Gly780Arg | |
| XM_017022258.1:c.2368G>A | XP_016877747.1:p.Gly790Arg | |
| XM_017022259.1:c.2296G>A | XP_016877748.1:p.Gly766Arg | |
| XM_017022260.1:c.2272G>A | XP_016877749.1:p.Gly758Arg | |
| XM_017022261.1:c.2215G>A | XP_016877750.1:p.Gly739Arg | |
| XM_017022262.1:c.2268+26107G>A | XP_016877751.1:n.2268+26107G>A | |
| XM_017022263.1:c.2203G>A | XP_016877752.1:p.Gly735Arg | |
| XM_017022264.1:c.2203G>A | XP_016877753.1:p.Gly735Arg | |
| NM_000275.3:c.2344G>A MANE Select | NP_000266.2:p.Gly782Arg | |
| NM_001300984.2:c.2272G>A | NP_001287913.1:p.Gly758Arg |