Linked Data
ClinVar Variation Id:
130023
dbSNP Id:
rs72937434
ExAC:
1:40539817 C / G
gnomAD v2:
1-40539817-C-G
gnomAD v3:
1-40074145-C-G
gnomAD v4:
1-40074145-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074145C>G , CM000663.2:g.40074145C>G | GRCh38 |
| NC_000001.10:g.40539817C>G , CM000663.1:g.40539817C>G | GRCh37 |
| NC_000001.9:g.40312404C>G | NCBI36 |
| NG_009192.1:g.28326G>C , LRG_690:g.28326G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.834G>C | ENSP00000394863.4:p.Gln278His | |
| ENST00000439754.6:c.765G>C | ENSP00000403207.2:p.Gln255His | |
| ENST00000449045.7:c.528G>C | ENSP00000392293.2:p.Gln176His | |
| ENST00000527311.7:c.606G>C | ENSP00000436695.3:p.Gln202His | |
| ENST00000530076.6:c.180G>C | ENSP00000434007.1:p.Gln60His | |
| ENST00000530704.6:c.*460G>C | ENSP00000431655.1:n.*460G>C | |
| ENST00000641083.1:c.927G>C | ||
| ENST00000641236.1:n.1074G>C | ||
| ENST00000641319.1:c.*47G>C | ENSP00000493128.1:n.*47G>C | |
| ENST00000641381.1:c.259G>C | ||
| ENST00000641471.1:c.924G>C | ENSP00000493146.1:p.Gln308His | |
| ENST00000641691.1:c.*689G>C | ENSP00000492910.1:n.*689G>C | |
| ENST00000641924.1:c.*266G>C | ENSP00000493063.1:n.*266G>C | |
| ENST00000642050.2:c.837G>C MANE Select | ENSP00000493153.1:p.Gln279His | |
| ENST00000372775.2:n.234G>C | ||
| ENST00000433473.7:c.837G>C | ENSP00000394863.3:p.Gln279His | |
| ENST00000439754.5:c.450G>C | ENSP00000403207.1:p.Gln150His | |
| ENST00000449045.6:c.528G>C | ENSP00000392293.2:p.Gln176His | |
| ENST00000527311.6:c.612G>C | ENSP00000436695.2:p.Gln204His | |
| ENST00000529905.5:c.837G>C | ENSP00000432053.1:p.Gln279His | |
| ENST00000530076.5:c.180G>C | ENSP00000434007.1:p.Gln60His | |
| ENST00000530704.5:c.*460G>C | ENSP00000431655.1:n.*460G>C | |
| NM_000310.3:c.837G>C , LRG_690t1:c.837G>C | NP_000301.1:p.Gln279His | |
| NM_001142604.1:c.528G>C | NP_001136076.1:p.Gln176His | |
| XM_005271008.1:c.765G>C | XP_005271065.1:p.Gln255His | |
| NM_001363695.1:c.765G>C | NP_001350624.1:p.Gln255His | |
| NM_000310.4:c.837G>C MANE Select | NP_000301.1:p.Gln279His | |
| NM_001142604.2:c.528G>C | NP_001136076.1:p.Gln176His | |
| NM_001363695.2:c.765G>C | NP_001350624.1:p.Gln255His |