Linked Data
ClinVar Variation Id:
46943
ClinVar RCV Id:
RCV000040213
RCV000266898
RCV000251423
RCV000263483
RCV000312419
RCV000354706
RCV000355579
RCV000465879
RCV000770040
RCV001081405
dbSNP Id:
rs72650077
ExAC:
2:179501351 G / A
gnomAD v2:
2-179501351-G-A
gnomAD v3:
2-178636624-G-A
gnomAD v4:
2-178636624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636624G>A , CM000664.2:g.178636624G>A | GRCh38 |
| NC_000002.11:g.179501351G>A , CM000664.1:g.179501351G>A | GRCh37 |
| NC_000002.10:g.179209596G>A | NCBI36 |
| NG_011618.3:g.199179C>T , LRG_391:g.199179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33399C>T | ENSP00000343764.6:p.Gly11133= | |
| ENST00000342175.11:c.14484C>T | ENSP00000340554.6:p.Gly4828= | |
| ENST00000359218.10:c.14283C>T | ENSP00000352154.5:p.Gly4761= | |
| ENST00000342175.10:c.14484C>T | ENSP00000340554.6:p.Gly4828= | |
| ENST00000342992.10:c.33399C>T | ENSP00000343764.6:p.Gly11133= | |
| ENST00000359218.9:c.14283C>T | ENSP00000352154.5:p.Gly4761= | |
| ENST00000460472.6:c.13908C>T | ENSP00000434586.1:p.Gly4636= | |
| ENST00000589042.5:c.41103C>T MANE Select | ENSP00000467141.1:p.Gly13701= | |
| ENST00000591111.5:c.36180C>T | ENSP00000465570.1:p.Gly12060= | |
| ENST00000615779.4:c.36180C>T | ENSP00000483597.1:p.Gly12060= | |
| NM_001256850.1:c.36180C>T | NP_001243779.1:p.Gly12060= | |
| NM_001267550.2:c.41103C>T MANE Select | NP_001254479.2:p.Gly13701= | |
| NM_003319.4:c.13908C>T | NP_003310.4:p.Gly4636= | |
| NM_133378.4:c.33399C>T | NP_596869.4:p.Gly11133= | |
| NM_133432.3:c.14283C>T | NP_597676.3:p.Gly4761= | |
| NM_133437.4:c.14484C>T | NP_597681.4:p.Gly4828= | |
| XM_011511729.1:c.40200C>T | XP_011510031.1:p.Gly13400= | |
| XM_011511730.1:c.14094C>T | XP_011510032.1:p.Gly4698= | |
| XM_011511731.1:c.13953C>T | XP_011510033.1:p.Gly4651= | |
| XM_017004819.1:c.39996C>T | XP_016860308.1:p.Gly13332= | |
| XM_017004820.1:c.35394C>T | XP_016860309.1:p.Gly11798= | |
| XM_017004821.1:c.35391C>T | XP_016860310.1:p.Gly11797= | |
| XM_017004822.1:c.32433C>T | XP_016860311.1:p.Gly10811= | |
| XM_017004823.1:c.14049C>T | XP_016860312.1:p.Gly4683= | |
| XM_024453094.1:c.35544C>T | XP_024308862.1:p.Gly11848= | |
| XM_024453095.1:c.35541C>T | XP_024308863.1:p.Gly11847= | |
| XM_024453096.1:c.34974C>T | XP_024308864.1:p.Gly11658= | |
| XM_024453097.1:c.32316C>T | XP_024308865.1:p.Gly10772= | |
| XM_024453098.1:c.32235C>T | XP_024308866.1:p.Gly10745= | |
| XM_024453099.1:c.13998C>T | XP_024308867.1:p.Gly4666= | |
| XM_024453100.1:c.3852C>T | XP_024308868.1:p.Gly1284= |