Linked Data
ClinVar Variation Id:
238775
ClinVar RCV Id:
RCV000231378
dbSNP Id:
rs878854306
gnomAD v2:
2-179500022-A-C
gnomAD v4:
2-178635295-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635295A>C , CM000664.2:g.178635295A>C | GRCh38 |
| NC_000002.11:g.179500022A>C , CM000664.1:g.179500022A>C | GRCh37 |
| NC_000002.10:g.179208267A>C | NCBI36 |
| NG_011618.3:g.200508T>G , LRG_391:g.200508T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34190T>G | ENSP00000343764.6:p.Val11397Gly | |
| ENST00000342175.11:c.15275T>G | ENSP00000340554.6:p.Val5092Gly | |
| ENST00000359218.10:c.15074T>G | ENSP00000352154.5:p.Val5025Gly | |
| ENST00000342175.10:c.15275T>G | ENSP00000340554.6:p.Val5092Gly | |
| ENST00000342992.10:c.34190T>G | ENSP00000343764.6:p.Val11397Gly | |
| ENST00000359218.9:c.15074T>G | ENSP00000352154.5:p.Val5025Gly | |
| ENST00000460472.6:c.14699T>G | ENSP00000434586.1:p.Val4900Gly | |
| ENST00000589042.5:c.41894T>G MANE Select | ENSP00000467141.1:p.Val13965Gly | |
| ENST00000591111.5:c.36971T>G | ENSP00000465570.1:p.Val12324Gly | |
| ENST00000615779.4:c.36971T>G | ENSP00000483597.1:p.Val12324Gly | |
| NM_001256850.1:c.36971T>G | NP_001243779.1:p.Val12324Gly | |
| NM_001267550.2:c.41894T>G MANE Select | NP_001254479.2:p.Val13965Gly | |
| NM_003319.4:c.14699T>G | NP_003310.4:p.Val4900Gly | |
| NM_133378.4:c.34190T>G | NP_596869.4:p.Val11397Gly | |
| NM_133432.3:c.15074T>G | NP_597676.3:p.Val5025Gly | |
| NM_133437.4:c.15275T>G | NP_597681.4:p.Val5092Gly | |
| XM_011511729.1:c.40991T>G | XP_011510031.1:p.Val13664Gly | |
| XM_011511730.1:c.14885T>G | XP_011510032.1:p.Val4962Gly | |
| XM_011511731.1:c.14744T>G | XP_011510033.1:p.Val4915Gly | |
| XM_017004819.1:c.40787T>G | XP_016860308.1:p.Val13596Gly | |
| XM_017004820.1:c.36185T>G | XP_016860309.1:p.Val12062Gly | |
| XM_017004821.1:c.36182T>G | XP_016860310.1:p.Val12061Gly | |
| XM_017004822.1:c.33224T>G | XP_016860311.1:p.Val11075Gly | |
| XM_017004823.1:c.14840T>G | XP_016860312.1:p.Val4947Gly | |
| XM_024453094.1:c.36335T>G | XP_024308862.1:p.Val12112Gly | |
| XM_024453095.1:c.36332T>G | XP_024308863.1:p.Val12111Gly | |
| XM_024453096.1:c.35765T>G | XP_024308864.1:p.Val11922Gly | |
| XM_024453097.1:c.33107T>G | XP_024308865.1:p.Val11036Gly | |
| XM_024453098.1:c.33026T>G | XP_024308866.1:p.Val11009Gly | |
| XM_024453099.1:c.14789T>G | XP_024308867.1:p.Val4930Gly | |
| XM_024453100.1:c.4643T>G | XP_024308868.1:p.Val1548Gly |