Linked Data
ClinVar Variation Id:
158721
dbSNP Id:
rs370665309
ExAC:
12:49426218 C / T
gnomAD v2:
12-49426218-C-T
gnomAD v3:
12-49032435-C-T
gnomAD v4:
12-49032435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49032435C>T , CM000674.2:g.49032435C>T | GRCh38 |
| NC_000012.11:g.49426218C>T , CM000674.1:g.49426218C>T | GRCh37 |
| NC_000012.10:g.47712485C>T | NCBI36 |
| NG_027827.1:g.27890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.12270G>A | ENSP00000506726.1:p.Gln4090= | |
| ENST00000685166.1:c.12279G>A | ENSP00000509386.1:p.Gln4093= | |
| ENST00000685554.1:c.1752+78G>A | ENSP00000508640.1:n.1752+78G>A | |
| ENST00000692637.1:c.12267G>A | ENSP00000509666.1:p.Gln4089= | |
| ENST00000692841.1:c.3749G>A | ENSP00000508711.1:n.3749G>A | |
| ENST00000301067.12:c.12270G>A MANE Select | ENSP00000301067.7:p.Gln4090= | |
| ENST00000301067.11:c.12270G>A | ENSP00000301067.7:p.Gln4090= | |
| NM_003482.3:c.12270G>A | NP_003473.3:p.Gln4090= | |
| XM_005269162.3:c.12270G>A | XP_005269219.1:p.Gln4090= | |
| XM_006719614.2:c.12279G>A | XP_006719677.1:p.Gln4093= | |
| XM_006719616.2:c.12267G>A | XP_006719679.1:p.Gln4089= | |
| XM_011538770.1:c.12279G>A | XP_011537072.1:p.Gln4093= | |
| XM_011538771.1:c.12276G>A | XP_011537073.1:p.Gln4092= | |
| XM_011538772.1:c.12270G>A | XP_011537074.1:p.Gln4090= | |
| XM_011538773.1:c.12267G>A | XP_011537075.1:p.Gln4089= | |
| XM_011538774.1:c.12258G>A | XP_011537076.1:p.Gln4086= | |
| XM_011538775.1:c.12279G>A | XP_011537077.1:p.Gln4093= | |
| XM_011538776.1:c.12186G>A | XP_011537078.1:p.Gln4062= | |
| XR_944740.1:n.14599G>A | ||
| XM_005269162.4:c.12270G>A | XP_005269219.1:p.Gln4090= | |
| XM_006719614.4:c.12279G>A | XP_006719677.1:p.Gln4093= | |
| XM_006719616.3:c.12267G>A | XP_006719679.1:p.Gln4089= | |
| XM_011538770.2:c.12279G>A | XP_011537072.1:p.Gln4093= | |
| XM_011538771.2:c.12276G>A | XP_011537073.1:p.Gln4092= | |
| XM_011538772.2:c.12270G>A | XP_011537074.1:p.Gln4090= | |
| XM_011538773.2:c.12267G>A | XP_011537075.1:p.Gln4089= | |
| XM_011538774.2:c.12258G>A | XP_011537076.1:p.Gln4086= | |
| XM_011538776.2:c.12186G>A | XP_011537078.1:p.Gln4062= | |
| XR_001748874.1:n.13588G>A | ||
| NM_003482.4:c.12270G>A MANE Select | NP_003473.3:p.Gln4090= |