Linked Data
ClinVar Variation Id:
2980811
ClinVar RCV Id:
RCV003839969
dbSNP Id:
rs368663587
ExAC:
1:153792137 C / T
gnomAD v2:
1-153792137-C-T
gnomAD v3:
1-153819661-C-T
gnomAD v4:
1-153819661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153819661C>T , CM000663.2:g.153819661C>T | GRCh38 |
| NC_000001.10:g.153792137C>T , CM000663.1:g.153792137C>T | GRCh37 |
| NC_000001.9:g.152058761C>T | NCBI36 |
| NG_050988.1:g.108315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703630.1:c.-14G>A | ENSP00000515408.1:n.-14G>A | |
| ENST00000368655.5:c.410G>A MANE Select | ENSP00000357644.4:p.Arg137His | |
| ENST00000368655.4:c.410G>A | ENSP00000357644.4:p.Arg137His | |
| ENST00000634401.1:c.410G>A | ENSP00000489313.1:p.Arg137His | |
| ENST00000634408.1:c.410G>A | ENSP00000489595.1:p.Arg137His | |
| ENST00000634544.1:c.410G>A | ENSP00000489184.1:p.Arg137His | |
| ENST00000634791.1:c.410G>A | ENSP00000489566.1:p.Arg137His | |
| NM_020699.2:c.410G>A | NP_065750.1:p.Arg137His | |
| XM_005245364.3:c.410G>A | XP_005245421.1:p.Arg137His | |
| XM_006711469.2:c.410G>A | XP_006711532.1:p.Arg137His | |
| XM_011509808.1:c.410G>A | XP_011508110.1:p.Arg137His | |
| NM_020699.3:c.410G>A | NP_065750.1:p.Arg137His | |
| XM_005245364.4:c.410G>A | XP_005245421.1:p.Arg137His | |
| XM_024448621.1:c.410G>A | XP_024304389.1:p.Arg137His | |
| NM_020699.4:c.410G>A MANE Select | NP_065750.1:p.Arg137His |