Linked Data
ClinVar Variation Id:
1589629
ClinVar RCV Id:
RCV002105091
dbSNP Id:
rs371036835
ExAC:
2:210640627 G / A
gnomAD v2:
2-210640627-G-A
gnomAD v4:
2-209775903-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.209775903G>A , CM000664.2:g.209775903G>A | GRCh38 |
| NC_000002.11:g.210640627G>A , CM000664.1:g.210640627G>A | GRCh37 |
| NC_000002.10:g.210348872G>A | NCBI36 |
| NG_051361.1:g.8979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673920.1:c.156G>A MANE Select | ENSP00000501211.1:p.Val52= | |
| ENST00000673951.1:c.156G>A | ENSP00000501012.1:p.Val52= | |
| ENST00000272845.10:c.156G>A | ENSP00000272845.5:p.Val52= | |
| ENST00000439458.5:c.156G>A | ENSP00000391088.1:p.Val52= | |
| ENST00000478701.1:n.236G>A | ||
| NM_032504.1:c.156G>A | NP_115893.1:p.Val52= | |
| NM_182587.3:c.156G>A | NP_872393.3:p.Val52= | |
| XM_005246476.1:c.156G>A | XP_005246533.1:p.Val52= | |
| XM_011511004.1:c.156G>A | XP_011509306.1:p.Val52= | |
| XM_011511005.1:c.156G>A | XP_011509307.1:p.Val52= | |
| XM_011511006.1:c.156G>A | XP_011509308.1:p.Val52= | |
| XM_011511007.1:c.156G>A | XP_011509309.1:p.Val52= | |
| XM_011511008.1:c.156G>A | XP_011509310.1:p.Val52= | |
| XM_011511009.1:c.156G>A | XP_011509311.1:p.Val52= | |
| XM_011511010.1:c.156G>A | XP_011509312.1:p.Val52= | |
| XM_011511011.1:c.156G>A | XP_011509313.1:p.Val52= | |
| XM_011511012.1:c.156G>A | XP_011509314.1:p.Val52= | |
| XM_011511010.2:c.156G>A | XP_011509312.1:p.Val52= | |
| XM_017003884.1:c.156G>A | XP_016859373.1:p.Val52= | |
| XM_017003885.1:c.156G>A | XP_016859374.1:p.Val52= | |
| XM_017003886.1:c.156G>A | XP_016859375.1:p.Val52= | |
| XM_017003887.1:c.156G>A | XP_016859376.1:p.Val52= | |
| XM_017003888.1:c.156G>A | XP_016859377.1:p.Val52= | |
| XM_017003889.1:c.156G>A | XP_016859378.1:p.Val52= | |
| XM_017003890.1:c.156G>A | XP_016859379.1:p.Val52= | |
| XM_017003891.1:c.-199G>A | XP_016859380.1:n.-199G>A | |
| XM_017003893.1:c.156G>A | XP_016859382.1:p.Val52= | |
| XR_002959283.1:n.236G>A | ||
| NM_001371986.1:c.156G>A MANE Select | NP_001358915.1:p.Val52= | |
| NM_182587.4:c.156G>A | NP_872393.3:p.Val52= | |
| NM_032504.2:c.156G>A | NP_115893.1:p.Val52= |