Linked Data
ClinVar Variation Id:
194989
ClinVar RCV Id:
RCV000175483
RCV000438792
RCV000206768
RCV001094125
RCV001173128
RCV001293356
RCV003937583
RCV002444702
dbSNP Id:
rs141330687
ExAC:
11:9878045 C / T
gnomAD v2:
11-9878045-C-T
gnomAD v3:
11-9856498-C-T
gnomAD v4:
11-9856498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9856498C>T , CM000673.2:g.9856498C>T | GRCh38 |
| NC_000011.9:g.9878045C>T , CM000673.1:g.9878045C>T | GRCh37 |
| NC_000011.8:g.9834621C>T | NCBI36 |
| NG_008074.1:g.442710G>A , LRG_267:g.442710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420722.3:c.1027G>A | ENSP00000410478.3:p.Gly343Ser | |
| ENST00000530741.2:c.1027G>A | ENSP00000432643.2:p.Gly343Ser | |
| ENST00000533770.6:c.2323G>A | ENSP00000509247.1:p.Gly775Ser | |
| ENST00000675281.2:c.2323G>A | ENSP00000502491.1:p.Gly775Ser | |
| ENST00000676324.2:c.2323G>A | ENSP00000502578.1:p.Gly775Ser | |
| ENST00000676387.2:c.2209G>A | ENSP00000502779.1:p.Gly737Ser | |
| ENST00000687210.1:c.*945G>A | ENSP00000509480.1:n.*945G>A | |
| ENST00000688344.1:c.1930G>A | ENSP00000509987.1:p.Gly644Ser | |
| ENST00000688417.1:n.2473G>A | ||
| ENST00000689128.1:c.2323G>A | ENSP00000509587.1:p.Gly775Ser | |
| ENST00000689258.1:c.2185G>A | ENSP00000510475.1:p.Gly729Ser | |
| ENST00000689597.1:c.1027G>A | ENSP00000510781.1:p.Gly343Ser | |
| ENST00000689674.1:c.1027G>A | ENSP00000510723.1:p.Gly343Ser | |
| ENST00000689940.1:c.2317G>A | ENSP00000508452.1:p.Gly773Ser | |
| ENST00000690003.1:c.1027G>A | ENSP00000508748.1:p.Gly343Ser | |
| ENST00000692716.1:c.2194G>A | ENSP00000509545.1:p.Gly732Ser | |
| ENST00000693181.1:c.1027G>A | ENSP00000510179.1:p.Gly343Ser | |
| ENST00000256190.13:c.2323G>A MANE Select | ENSP00000256190.8:p.Gly775Ser | |
| ENST00000675281.1:c.2323G>A | ENSP00000502491.1:p.Gly775Ser | |
| ENST00000676324.1:c.2323G>A | ENSP00000502578.1:p.Gly775Ser | |
| ENST00000676387.1:c.2209G>A | ENSP00000502779.1:p.Gly737Ser | |
| ENST00000256190.12:c.2323G>A | ENSP00000256190.8:p.Gly775Ser | |
| ENST00000420722.2:c.1142G>A | ||
| ENST00000533770.5:n.2238G>A | ||
| ENST00000617179.4:c.2182G>A | ENSP00000482806.1:p.Gly728Ser | |
| NM_030962.3:c.2323G>A , LRG_267t1:c.2323G>A | NP_112224.1:p.Gly775Ser | |
| NR_120539.1:n.135+17222C>T | ||
| XM_005253154.3:c.2323G>A | XP_005253211.1:p.Gly775Ser | |
| XM_005253155.3:c.2194G>A | XP_005253212.1:p.Gly732Ser | |
| XM_011520394.1:c.2209G>A | XP_011518696.1:p.Gly737Ser | |
| XM_011520395.1:c.2323G>A | XP_011518697.1:p.Gly775Ser | |
| XM_011520396.1:c.2323G>A | XP_011518698.1:p.Gly775Ser | |
| XM_005253154.5:c.2323G>A | XP_005253211.1:p.Gly775Ser | |
| XM_005253155.5:c.2194G>A | XP_005253212.1:p.Gly732Ser | |
| XM_011520394.3:c.2209G>A | XP_011518696.1:p.Gly737Ser | |
| XM_011520395.3:c.2323G>A | XP_011518697.1:p.Gly775Ser | |
| XM_011520396.3:c.2323G>A | XP_011518698.1:p.Gly775Ser | |
| XM_017018372.2:c.2185G>A | XP_016873861.1:p.Gly729Ser | |
| XM_017018373.2:c.2185G>A | XP_016873862.1:p.Gly729Ser | |
| XM_017018374.2:c.2194G>A | XP_016873863.1:p.Gly732Ser | |
| XM_017018375.2:c.2323G>A | XP_016873864.1:p.Gly775Ser | |
| XM_017018376.2:c.2323G>A | XP_016873865.1:p.Gly775Ser | |
| XM_017018377.2:c.2323G>A | XP_016873866.1:p.Gly775Ser | |
| XR_001747994.2:n.2461G>A | ||
| NM_001386339.1:c.2323G>A | NP_001373268.1:p.Gly775Ser | |
| NM_001386342.1:c.2194G>A | NP_001373271.1:p.Gly732Ser | |
| NM_030962.4:c.2323G>A MANE Select | NP_112224.1:p.Gly775Ser |