Linked Data
ClinVar Variation Id:
47661
ClinVar RCV Id:
RCV000040930
RCV000250698
RCV000293205
RCV000298130
RCV000351441
RCV000387371
RCV000403895
RCV000993512
RCV001521507
dbSNP Id:
rs2291312
ExAC:
2:179631214 T / C
gnomAD v2:
2-179631214-T-C
gnomAD v3:
2-178766487-T-C
gnomAD v4:
2-178766487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178766487T>C , CM000664.2:g.178766487T>C | GRCh38 |
| NC_000002.11:g.179631214T>C , CM000664.1:g.179631214T>C | GRCh37 |
| NC_000002.10:g.179339459T>C | NCBI36 |
| NG_011618.3:g.69316A>G , LRG_391:g.69316A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.9597A>G | ENSP00000343764.6:p.Glu3199= | |
| ENST00000342175.11:c.9459A>G | ENSP00000340554.6:p.Glu3153= | |
| ENST00000359218.10:c.9459A>G | ENSP00000352154.5:p.Glu3153= | |
| ENST00000360870.10:c.9597A>G MANE Plus Clinical | ENSP00000354117.4:p.Glu3199= | |
| ENST00000342175.10:c.9459A>G | ENSP00000340554.6:p.Glu3153= | |
| ENST00000342992.10:c.9597A>G | ENSP00000343764.6:p.Glu3199= | |
| ENST00000359218.9:c.9459A>G | ENSP00000352154.5:p.Glu3153= | |
| ENST00000360870.9:c.9597A>G | ENSP00000354117.4:p.Glu3199= | |
| ENST00000460472.6:c.9459A>G | ENSP00000434586.1:p.Glu3153= | |
| ENST00000589042.5:c.9597A>G MANE Select | ENSP00000467141.1:p.Glu3199= | |
| ENST00000591111.5:c.9597A>G | ENSP00000465570.1:p.Glu3199= | |
| ENST00000615779.4:c.9597A>G | ENSP00000483597.1:p.Glu3199= | |
| ENST00000634225.1:c.193A>G | ||
| NM_001256850.1:c.9597A>G | NP_001243779.1:p.Glu3199= | |
| NM_001267550.2:c.9597A>G MANE Select | NP_001254479.2:p.Glu3199= | |
| NM_003319.4:c.9459A>G | NP_003310.4:p.Glu3153= | |
| NM_133378.4:c.9597A>G | NP_596869.4:p.Glu3199= | |
| NM_133379.4:c.9597A>G , LRG_391t2:c.9597A>G | NP_596870.2:p.Glu3199= | |
| NM_133432.3:c.9459A>G | NP_597676.3:p.Glu3153= | |
| NM_133437.4:c.9459A>G | NP_597681.4:p.Glu3153= | |
| XM_011511729.1:c.9645A>G | XP_011510031.1:p.Glu3215= | |
| XM_011511730.1:c.9645A>G | XP_011510032.1:p.Glu3215= | |
| XM_011511731.1:c.9504A>G | XP_011510033.1:p.Glu3168= | |
| XM_011511732.1:c.9642A>G | XP_011510034.1:p.Glu3214= | |
| XM_017004819.1:c.9600A>G | XP_016860308.1:p.Glu3200= | |
| XM_017004820.1:c.9600A>G | XP_016860309.1:p.Glu3200= | |
| XM_017004821.1:c.9597A>G | XP_016860310.1:p.Glu3199= | |
| XM_017004822.1:c.9600A>G | XP_016860311.1:p.Glu3200= | |
| XM_017004823.1:c.9600A>G | XP_016860312.1:p.Glu3200= | |
| XM_024453094.1:c.9600A>G | XP_024308862.1:p.Glu3200= | |
| XM_024453095.1:c.9600A>G | XP_024308863.1:p.Glu3200= | |
| XM_024453096.1:c.9600A>G | XP_024308864.1:p.Glu3200= | |
| XM_024453097.1:c.9600A>G | XP_024308865.1:p.Glu3200= | |
| XM_024453098.1:c.9600A>G | XP_024308866.1:p.Glu3200= | |
| XM_024453099.1:c.9600A>G | XP_024308867.1:p.Glu3200= | |
| NM_133379.5:c.9597A>G MANE Plus Clinical | NP_596870.2:p.Glu3199= |