Linked Data
ClinVar Variation Id:
2497977
ClinVar RCV Id:
RCV003219043
dbSNP Id:
rs757145918
gnomAD v2:
2-32289094-G-A
gnomAD v4:
2-32064025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32064025G>A , CM000664.2:g.32064025G>A | GRCh38 |
| NC_000002.11:g.32289094G>A , CM000664.1:g.32289094G>A | GRCh37 |
| NC_000002.10:g.32142598G>A | NCBI36 |
| NG_008730.1:g.5415G>A , LRG_714:g.5415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.194G>A | ENSP00000515816.1:p.Arg65His | |
| ENST00000315285.9:c.194G>A MANE Select | ENSP00000320885.3:p.Arg65His | |
| ENST00000621856.2:c.194G>A | ENSP00000482496.2:p.Arg65His | |
| ENST00000642281.1:c.78G>A | ||
| ENST00000642455.1:c.194G>A | ENSP00000493827.1:p.Arg65His | |
| ENST00000642751.1:c.64G>A | ||
| ENST00000642999.1:c.-65G>A | ENSP00000496589.1:n.-65G>A | |
| ENST00000644408.1:c.70G>A | ||
| ENST00000644954.1:c.-65G>A | ENSP00000494312.1:n.-65G>A | |
| ENST00000645400.1:c.35G>A | ENSP00000496306.1:p.Arg12His | |
| ENST00000646082.1:c.28G>A | ||
| ENST00000646571.1:c.194G>A | ENSP00000495015.1:p.Arg65His | |
| ENST00000315285.7:c.194G>A | ENSP00000320885.3:p.Arg65His | |
| ENST00000345662.5:c.194G>A | ENSP00000340817.1:p.Arg65His | |
| ENST00000615843.4:c.194G>A | ENSP00000480893.1:p.Arg65His | |
| ENST00000621856.1:c.-65G>A | ENSP00000482496.1:n.-65G>A | |
| NM_014946.3:c.194G>A , LRG_714t1:c.194G>A | NP_055761.2:p.Arg65His | |
| NM_199436.1:c.194G>A | NP_955468.1:p.Arg65His | |
| XM_005264516.3:c.194G>A | XP_005264573.1:p.Arg65His | |
| XM_011533067.1:c.194G>A | XP_011531369.1:p.Arg65His | |
| NM_001363823.1:c.194G>A | NP_001350752.1:p.Arg65His | |
| NM_001363875.1:c.194G>A | NP_001350804.1:p.Arg65His | |
| XM_005264516.5:c.194G>A | XP_005264573.1:p.Arg65His | |
| XM_011533067.2:c.194G>A | XP_011531369.1:p.Arg65His | |
| XM_017004778.2:c.194G>A | XP_016860267.1:p.Arg65His | |
| NM_001363823.2:c.194G>A | NP_001350752.1:p.Arg65His | |
| NM_001363875.2:c.194G>A | NP_001350804.1:p.Arg65His | |
| NM_001377959.1:c.194G>A | NP_001364888.1:p.Arg65His | |
| NM_014946.4:c.194G>A MANE Select | NP_055761.2:p.Arg65His | |
| NM_199436.2:c.194G>A | NP_955468.1:p.Arg65His |