Linked Data
ClinVar Variation Id:
179265
ClinVar RCV Id:
RCV000156052
RCV000292039
RCV000285996
RCV000341059
RCV000401479
RCV000346971
RCV000456625
RCV000617426
dbSNP Id:
rs550471556
ExAC:
2:179498195 G / A
gnomAD v2:
2-179498195-G-A
gnomAD v3:
2-178633468-G-A
gnomAD v4:
2-178633468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633468G>A , CM000664.2:g.178633468G>A | GRCh38 |
| NC_000002.11:g.179498195G>A , CM000664.1:g.179498195G>A | GRCh37 |
| NC_000002.10:g.179206440G>A | NCBI36 |
| NG_011618.3:g.202335C>T , LRG_391:g.202335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35187C>T | ENSP00000343764.6:p.Gly11729= | |
| ENST00000342175.11:c.16272C>T | ENSP00000340554.6:p.Gly5424= | |
| ENST00000359218.10:c.16071C>T | ENSP00000352154.5:p.Gly5357= | |
| ENST00000342175.10:c.16272C>T | ENSP00000340554.6:p.Gly5424= | |
| ENST00000342992.10:c.35187C>T | ENSP00000343764.6:p.Gly11729= | |
| ENST00000359218.9:c.16071C>T | ENSP00000352154.5:p.Gly5357= | |
| ENST00000460472.6:c.15696C>T | ENSP00000434586.1:p.Gly5232= | |
| ENST00000589042.5:c.42891C>T MANE Select | ENSP00000467141.1:p.Gly14297= | |
| ENST00000591111.5:c.37968C>T | ENSP00000465570.1:p.Gly12656= | |
| ENST00000615779.4:c.37968C>T | ENSP00000483597.1:p.Gly12656= | |
| NM_001256850.1:c.37968C>T | NP_001243779.1:p.Gly12656= | |
| NM_001267550.2:c.42891C>T MANE Select | NP_001254479.2:p.Gly14297= | |
| NM_003319.4:c.15696C>T | NP_003310.4:p.Gly5232= | |
| NM_133378.4:c.35187C>T | NP_596869.4:p.Gly11729= | |
| NM_133432.3:c.16071C>T | NP_597676.3:p.Gly5357= | |
| NM_133437.4:c.16272C>T | NP_597681.4:p.Gly5424= | |
| XM_011511729.1:c.41988C>T | XP_011510031.1:p.Gly13996= | |
| XM_011511730.1:c.15882C>T | XP_011510032.1:p.Gly5294= | |
| XM_011511731.1:c.15741C>T | XP_011510033.1:p.Gly5247= | |
| XM_017004819.1:c.41784C>T | XP_016860308.1:p.Gly13928= | |
| XM_017004820.1:c.37182C>T | XP_016860309.1:p.Gly12394= | |
| XM_017004821.1:c.37179C>T | XP_016860310.1:p.Gly12393= | |
| XM_017004822.1:c.34221C>T | XP_016860311.1:p.Gly11407= | |
| XM_017004823.1:c.15837C>T | XP_016860312.1:p.Gly5279= | |
| XM_024453094.1:c.37332C>T | XP_024308862.1:p.Gly12444= | |
| XM_024453095.1:c.37329C>T | XP_024308863.1:p.Gly12443= | |
| XM_024453096.1:c.36762C>T | XP_024308864.1:p.Gly12254= | |
| XM_024453097.1:c.34104C>T | XP_024308865.1:p.Gly11368= | |
| XM_024453098.1:c.34023C>T | XP_024308866.1:p.Gly11341= | |
| XM_024453099.1:c.15786C>T | XP_024308867.1:p.Gly5262= | |
| XM_024453100.1:c.5640C>T | XP_024308868.1:p.Gly1880= |