Linked Data
ClinVar Variation Id:
127737
dbSNP Id:
rs143914387
ExAC:
2:215674261 C / A
gnomAD v2:
2-215674261-C-A
gnomAD v3:
2-214809537-C-A
gnomAD v4:
2-214809537-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214809537C>A , CM000664.2:g.214809537C>A | GRCh38 |
| NC_000002.11:g.215674261C>A , CM000664.1:g.215674261C>A | GRCh37 |
| NC_000002.10:g.215382506C>A | NCBI36 |
| NG_012047.2:g.5168G>T | |
| NG_012047.3:g.5175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.33G>T MANE Select | ENSP00000260947.4:p.Gln11His | |
| ENST00000421162.2:c.33G>T | ENSP00000392245.2:p.Gln11His | |
| ENST00000613192.2:c.33G>T | ENSP00000483275.2:p.Gln11His | |
| ENST00000613374.5:c.33G>T | ENSP00000484464.1:p.Gln11His | |
| ENST00000613706.5:c.33G>T | ENSP00000484976.2:p.Gln11His | |
| ENST00000617164.5:c.33G>T | ENSP00000480470.1:p.Gln11His | |
| ENST00000619009.5:c.33G>T | ENSP00000482293.1:p.Gln11His | |
| ENST00000260947.8:c.33G>T | ENSP00000260947.4:p.Gln11His | |
| ENST00000421162.1:c.33G>T | ENSP00000392245.1:p.Gln11His | |
| ENST00000455743.5:c.33G>T | ENSP00000412186.1:p.Gln11His | |
| ENST00000471787.1:n.134G>T | ||
| ENST00000479904.1:n.124G>T | ||
| ENST00000613192.1:c.-53G>T | ENSP00000483275.1:n.-53G>T | |
| ENST00000613374.4:c.33G>T | ENSP00000484464.1:p.Gln11His | |
| ENST00000613706.4:c.33G>T | ENSP00000484976.1:p.Gln11His | |
| ENST00000617164.4:c.33G>T | ENSP00000480470.1:p.Gln11His | |
| ENST00000619009.4:c.33G>T | ENSP00000482293.1:p.Gln11His | |
| ENST00000620057.4:c.33G>T | ENSP00000481988.1:p.Gln11His | |
| NM_000465.3:c.33G>T | NP_000456.2:p.Gln11His | |
| NM_001282543.1:c.33G>T | NP_001269472.1:p.Gln11His | |
| NM_001282545.1:c.33G>T | NP_001269474.1:p.Gln11His | |
| NM_001282548.1:c.33G>T | NP_001269477.1:p.Gln11His | |
| NM_001282549.1:c.33G>T | NP_001269478.1:p.Gln11His | |
| NR_104212.1:n.175G>T | ||
| NR_104215.1:n.175G>T | ||
| NR_104216.1:n.175G>T | ||
| XM_011511568.1:c.33G>T | XP_011509870.1:p.Gln11His | |
| XM_017004613.1:c.33G>T | XP_016860102.1:p.Gln11His | |
| XM_017004614.1:c.33G>T | XP_016860103.1:p.Gln11His | |
| XR_002959322.1:n.124G>T | ||
| NM_000465.4:c.33G>T MANE Select | NP_000456.2:p.Gln11His | |
| NM_001282543.2:c.33G>T | NP_001269472.1:p.Gln11His | |
| NM_001282545.2:c.33G>T | NP_001269474.1:p.Gln11His | |
| NM_001282548.2:c.33G>T | NP_001269477.1:p.Gln11His | |
| NM_001282549.2:c.33G>T | NP_001269478.1:p.Gln11His | |
| NR_104212.2:n.147G>T | ||
| NR_104215.2:n.147G>T | ||
| NR_104216.2:n.147G>T |