Linked Data
ClinVar Variation Id:
500703
dbSNP Id:
rs775862454
ExAC:
12:49424662 T / G
gnomAD v2:
12-49424662-T-G
gnomAD v3:
12-49030879-T-G
gnomAD v4:
12-49030879-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030879T>G , CM000674.2:g.49030879T>G | GRCh38 |
| NC_000012.11:g.49424662T>G , CM000674.1:g.49424662T>G | GRCh37 |
| NC_000012.10:g.47710929T>G | NCBI36 |
| NG_027827.1:g.29446A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.371+14A>C | ||
| ENST00000683543.2:c.13671+14A>C | ENSP00000506726.1:n.13671+14A>C | |
| ENST00000685166.1:c.13680+14A>C | ENSP00000509386.1:n.13680+14A>C | |
| ENST00000685982.1:c.139-111A>C | ENSP00000508613.1:n.139-111A>C | |
| ENST00000691986.1:c.138+296A>C | ENSP00000509196.1:n.138+296A>C | |
| ENST00000692637.1:c.13668+14A>C | ENSP00000509666.1:n.13668+14A>C | |
| ENST00000692973.1:c.272+14A>C | ENSP00000508893.1:n.272+14A>C | |
| ENST00000301067.12:c.13671+14A>C MANE Select | ENSP00000301067.7:n.13671+14A>C | |
| ENST00000301067.11:c.13671+14A>C | ENSP00000301067.7:n.13671+14A>C | |
| ENST00000552391.1:n.371+14A>C | ||
| NM_003482.3:c.13671+14A>C | NP_003473.3:n.13671+14A>C | |
| XM_005269162.3:c.13671+14A>C | XP_005269219.1:n.13671+14A>C | |
| XM_006719614.2:c.13680+14A>C | XP_006719677.1:n.13680+14A>C | |
| XM_006719616.2:c.13668+14A>C | XP_006719679.1:n.13668+14A>C | |
| XM_011538770.1:c.13680+14A>C | XP_011537072.1:n.13680+14A>C | |
| XM_011538771.1:c.13677+14A>C | XP_011537073.1:n.13677+14A>C | |
| XM_011538772.1:c.13671+14A>C | XP_011537074.1:n.13671+14A>C | |
| XM_011538773.1:c.13668+14A>C | XP_011537075.1:n.13668+14A>C | |
| XM_011538774.1:c.13659+14A>C | XP_011537076.1:n.13659+14A>C | |
| XM_011538775.1:c.13680+14A>C | XP_011537077.1:n.13680+14A>C | |
| XM_011538776.1:c.13587+14A>C | XP_011537078.1:n.13587+14A>C | |
| XR_944740.1:n.16000+14A>C | ||
| XM_005269162.4:c.13671+14A>C | XP_005269219.1:n.13671+14A>C | |
| XM_006719614.4:c.13680+14A>C | XP_006719677.1:n.13680+14A>C | |
| XM_006719616.3:c.13668+14A>C | XP_006719679.1:n.13668+14A>C | |
| XM_011538770.2:c.13680+14A>C | XP_011537072.1:n.13680+14A>C | |
| XM_011538771.2:c.13677+14A>C | XP_011537073.1:n.13677+14A>C | |
| XM_011538772.2:c.13671+14A>C | XP_011537074.1:n.13671+14A>C | |
| XM_011538773.2:c.13668+14A>C | XP_011537075.1:n.13668+14A>C | |
| XM_011538774.2:c.13659+14A>C | XP_011537076.1:n.13659+14A>C | |
| XM_011538776.2:c.13587+14A>C | XP_011537078.1:n.13587+14A>C | |
| XR_001748874.1:n.14989+14A>C | ||
| NM_003482.4:c.13671+14A>C MANE Select | NP_003473.3:n.13671+14A>C |