Linked Data
ClinVar Variation Id:
543444
dbSNP Id:
rs191237702
ExAC:
8:134269029 G / C
gnomAD v2:
8-134269029-G-C
gnomAD v3:
8-133256786-G-C
gnomAD v4:
8-133256786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133256786G>C , CM000670.2:g.133256786G>C | GRCh38 |
| NC_000008.10:g.134269029G>C , CM000670.1:g.134269029G>C | GRCh37 |
| NC_000008.9:g.134338211G>C | NCBI36 |
| NG_007943.1:g.45470C>G , LRG_258:g.45470C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.528C>G MANE Select | ENSP00000319977.8:p.Ala176= | |
| ENST00000537882.3:c.528C>G | ENSP00000437443.2:p.Ala176= | |
| ENST00000674925.1:c.78C>G | ENSP00000501624.1:p.Ala26= | |
| ENST00000676222.1:c.61+1580C>G | ||
| ENST00000676444.1:n.559C>G | ||
| ENST00000323851.11:c.528C>G | ENSP00000319977.7:p.Ala176= | |
| ENST00000414097.6:c.528C>G | ENSP00000404854.2:p.Ala176= | |
| ENST00000517331.5:n.246C>G | ||
| ENST00000517599.5:c.*134C>G | ENSP00000429172.1:n.*134C>G | |
| ENST00000518066.5:c.37-14730C>G | ENSP00000431057.1:n.37-14730C>G | |
| ENST00000518176.5:c.49-10123C>G | ENSP00000429007.1:n.49-10123C>G | |
| ENST00000520230.5:c.579C>G | ENSP00000428345.1:p.Ala193= | |
| ENST00000522377.5:c.528C>G | ENSP00000429380.1:p.Ala176= | |
| ENST00000522476.5:c.330C>G | ENSP00000427894.1:p.Ala110= | |
| ENST00000537882.2:c.285C>G | ENSP00000437443.1:p.Ala95= | |
| NM_001135242.1:c.528C>G | NP_001128714.1:p.Ala176= | |
| NM_001258432.1:c.330C>G | NP_001245361.1:p.Ala110= | |
| NM_001258433.1:c.285C>G | NP_001245362.1:p.Ala95= | |
| NM_006096.3:c.528C>G , LRG_258t1:c.528C>G | NP_006087.2:p.Ala176= | |
| XM_011516791.1:c.528C>G | XP_011515093.1:p.Ala176= | |
| NM_001135242.2:c.528C>G | NP_001128714.1:p.Ala176= | |
| NM_001258432.2:c.330C>G | NP_001245361.1:p.Ala110= | |
| NM_001258433.2:c.285C>G | NP_001245362.1:p.Ala95= | |
| NM_001374844.1:c.528C>G | NP_001361773.1:p.Ala176= | |
| NM_001374845.1:c.528C>G | NP_001361774.1:p.Ala176= | |
| NM_001374846.1:c.528C>G | NP_001361775.1:p.Ala176= | |
| NM_001374847.1:c.330C>G | NP_001361776.1:p.Ala110= | |
| NM_006096.4:c.528C>G MANE Select | NP_006087.2:p.Ala176= |