Linked Data
ClinVar Variation Id:
1336403
dbSNP Id:
rs758268996
ExAC:
12:49424787 C / T
gnomAD v2:
12-49424787-C-T
gnomAD v3:
12-49031004-C-T
gnomAD v4:
12-49031004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49031004C>T , CM000674.2:g.49031004C>T | GRCh38 |
| NC_000012.11:g.49424787C>T , CM000674.1:g.49424787C>T | GRCh37 |
| NC_000012.10:g.47711054C>T | NCBI36 |
| NG_027827.1:g.29321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.260G>A | ||
| ENST00000683543.2:c.13560G>A | ENSP00000506726.1:p.Pro4520= | |
| ENST00000685166.1:c.13569G>A | ENSP00000509386.1:p.Pro4523= | |
| ENST00000685982.1:c.138+171G>A | ENSP00000508613.1:n.138+171G>A | |
| ENST00000691986.1:c.138+171G>A | ENSP00000509196.1:n.138+171G>A | |
| ENST00000692637.1:c.13557G>A | ENSP00000509666.1:p.Pro4519= | |
| ENST00000692973.1:c.161G>A | ENSP00000508893.1:n.161G>A | |
| ENST00000301067.12:c.13560G>A MANE Select | ENSP00000301067.7:p.Pro4520= | |
| ENST00000301067.11:c.13560G>A | ENSP00000301067.7:p.Pro4520= | |
| ENST00000552391.1:n.260G>A | ||
| NM_003482.3:c.13560G>A | NP_003473.3:p.Pro4520= | |
| XM_005269162.3:c.13560G>A | XP_005269219.1:p.Pro4520= | |
| XM_006719614.2:c.13569G>A | XP_006719677.1:p.Pro4523= | |
| XM_006719616.2:c.13557G>A | XP_006719679.1:p.Pro4519= | |
| XM_011538770.1:c.13569G>A | XP_011537072.1:p.Pro4523= | |
| XM_011538771.1:c.13566G>A | XP_011537073.1:p.Pro4522= | |
| XM_011538772.1:c.13560G>A | XP_011537074.1:p.Pro4520= | |
| XM_011538773.1:c.13557G>A | XP_011537075.1:p.Pro4519= | |
| XM_011538774.1:c.13548G>A | XP_011537076.1:p.Pro4516= | |
| XM_011538775.1:c.13569G>A | XP_011537077.1:p.Pro4523= | |
| XM_011538776.1:c.13476G>A | XP_011537078.1:p.Pro4492= | |
| XR_944740.1:n.15889G>A | ||
| XM_005269162.4:c.13560G>A | XP_005269219.1:p.Pro4520= | |
| XM_006719614.4:c.13569G>A | XP_006719677.1:p.Pro4523= | |
| XM_006719616.3:c.13557G>A | XP_006719679.1:p.Pro4519= | |
| XM_011538770.2:c.13569G>A | XP_011537072.1:p.Pro4523= | |
| XM_011538771.2:c.13566G>A | XP_011537073.1:p.Pro4522= | |
| XM_011538772.2:c.13560G>A | XP_011537074.1:p.Pro4520= | |
| XM_011538773.2:c.13557G>A | XP_011537075.1:p.Pro4519= | |
| XM_011538774.2:c.13548G>A | XP_011537076.1:p.Pro4516= | |
| XM_011538776.2:c.13476G>A | XP_011537078.1:p.Pro4492= | |
| XR_001748874.1:n.14878G>A | ||
| NM_003482.4:c.13560G>A MANE Select | NP_003473.3:p.Pro4520= |