Linked Data
ClinVar Variation Id:
465869
dbSNP Id:
rs200076129
ExAC:
9:34635838 C / T
gnomAD v2:
9-34635838-C-T
gnomAD v3:
9-34635841-C-T
gnomAD v4:
9-34635841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34635841C>T , CM000671.2:g.34635841C>T | GRCh38 |
| NC_000009.11:g.34635838C>T , CM000671.1:g.34635838C>T | GRCh37 |
| NC_000009.10:g.34625838C>T | NCBI36 |
| NG_029945.2:g.6931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277010.9:c.463G>A MANE Select | ENSP00000277010.4:p.Gly155Arg | |
| ENST00000497006.2:n.740G>A | ||
| ENST00000679597.1:c.403G>A | ENSP00000505634.1:p.Gly135Arg | |
| ENST00000680104.1:c.*633G>A | ENSP00000505949.1:n.*633G>A | |
| ENST00000680244.1:c.446-201G>A | ENSP00000505305.1:n.446-201G>A | |
| ENST00000680277.1:c.*6G>A | ENSP00000505742.1:n.*6G>A | |
| ENST00000680730.1:c.323G>A | ENSP00000505588.1:p.Arg108Gln | |
| ENST00000681409.1:n.1850G>A | ||
| ENST00000277010.8:c.463G>A | ENSP00000277010.4:p.Gly155Arg | |
| ENST00000353468.4:c.*95G>A | ENSP00000434453.1:n.*95G>A | |
| ENST00000378892.5:c.196G>A | ENSP00000368170.1:p.Gly66Arg | |
| ENST00000461426.1:n.595G>A | ||
| ENST00000477726.1:c.370G>A | ENSP00000420022.1:p.Gly124Arg | |
| ENST00000497006.1:n.579G>A | ||
| NM_001282205.1:c.446-201G>A | NP_001269134.1:n.446-201G>A | |
| NM_001282206.1:c.163G>A | NP_001269135.1:p.Gly55Arg | |
| NM_001282207.1:c.403G>A | NP_001269136.1:p.Gly135Arg | |
| NM_001282208.1:c.*6G>A | NP_001269137.1:n.*6G>A | |
| NM_001282209.1:c.323G>A | NP_001269138.1:p.Arg108Gln | |
| NM_005866.3:c.463G>A | NP_005857.1:p.Gly155Arg | |
| NM_147157.2:c.370G>A | NP_671513.1:p.Gly124Arg | |
| NR_104108.1:n.479G>A | ||
| XM_011517674.1:c.439G>A | XP_011515976.1:p.Gly147Arg | |
| NM_005866.4:c.463G>A MANE Select | NP_005857.1:p.Gly155Arg | |
| NM_001282205.2:c.446-201G>A | NP_001269134.1:n.446-201G>A | |
| NM_001282206.2:c.163G>A | NP_001269135.1:p.Gly55Arg | |
| NM_001282207.2:c.403G>A | NP_001269136.1:p.Gly135Arg | |
| NM_001282208.2:c.*6G>A | NP_001269137.1:n.*6G>A | |
| NM_001282209.2:c.323G>A | NP_001269138.1:p.Arg108Gln | |
| NM_147157.3:c.370G>A | NP_671513.1:p.Gly124Arg | |
| NR_104108.2:n.440G>A |