Linked Data
ClinVar Variation Id:
158733
dbSNP Id:
rs587783694
gnomAD v2:
12-49420909-G-T
gnomAD v4:
12-49027126-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49027126G>T , CM000674.2:g.49027126G>T | GRCh38 |
| NC_000012.11:g.49420909G>T , CM000674.1:g.49420909G>T | GRCh37 |
| NC_000012.10:g.47707176G>T | NCBI36 |
| NG_027827.1:g.33199C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.14840C>A | ENSP00000506726.1:p.Pro4947His | |
| ENST00000685166.1:c.14849C>A | ENSP00000509386.1:p.Pro4950His | |
| ENST00000688411.1:c.261+677C>A | ENSP00000510146.1:n.261+677C>A | |
| ENST00000691463.1:c.262-36C>A | ENSP00000510624.1:n.262-36C>A | |
| ENST00000692637.1:c.14837C>A | ENSP00000509666.1:p.Pro4946His | |
| ENST00000301067.12:c.14840C>A MANE Select | ENSP00000301067.7:p.Pro4947His | |
| ENST00000301067.11:c.14840C>A | ENSP00000301067.7:p.Pro4947His | |
| NM_003482.3:c.14840C>A | NP_003473.3:p.Pro4947His | |
| XM_005269162.3:c.14840C>A | XP_005269219.1:p.Pro4947His | |
| XM_006719614.2:c.14849C>A | XP_006719677.1:p.Pro4950His | |
| XM_006719616.2:c.14837C>A | XP_006719679.1:p.Pro4946His | |
| XM_011538770.1:c.14849C>A | XP_011537072.1:p.Pro4950His | |
| XM_011538771.1:c.14846C>A | XP_011537073.1:p.Pro4949His | |
| XM_011538772.1:c.14840C>A | XP_011537074.1:p.Pro4947His | |
| XM_011538773.1:c.14837C>A | XP_011537075.1:p.Pro4946His | |
| XM_011538774.1:c.14828C>A | XP_011537076.1:p.Pro4943His | |
| XM_011538775.1:c.14783C>A | XP_011537077.1:p.Pro4928His | |
| XM_011538776.1:c.14756C>A | XP_011537078.1:p.Pro4919His | |
| XR_944740.1:n.16972+677C>A | ||
| XM_005269162.4:c.14840C>A | XP_005269219.1:p.Pro4947His | |
| XM_006719614.4:c.14849C>A | XP_006719677.1:p.Pro4950His | |
| XM_006719616.3:c.14837C>A | XP_006719679.1:p.Pro4946His | |
| XM_011538770.2:c.14849C>A | XP_011537072.1:p.Pro4950His | |
| XM_011538771.2:c.14846C>A | XP_011537073.1:p.Pro4949His | |
| XM_011538772.2:c.14840C>A | XP_011537074.1:p.Pro4947His | |
| XM_011538773.2:c.14837C>A | XP_011537075.1:p.Pro4946His | |
| XM_011538774.2:c.14828C>A | XP_011537076.1:p.Pro4943His | |
| XM_011538776.2:c.14756C>A | XP_011537078.1:p.Pro4919His | |
| XR_001748874.1:n.15961+677C>A | ||
| NM_003482.4:c.14840C>A MANE Select | NP_003473.3:p.Pro4947His |