Linked Data
ClinVar Variation Id:
129242
dbSNP Id:
rs11551349
ExAC:
2:198363546 G / C
gnomAD v2:
2-198363546-G-C
gnomAD v3:
2-197498822-G-C
gnomAD v4:
2-197498822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197498822G>C , CM000664.2:g.197498822G>C | GRCh38 |
| NC_000002.11:g.198363546G>C , CM000664.1:g.198363546G>C | GRCh37 |
| NC_000002.10:g.198071791G>C | NCBI36 |
| NG_008914.1:g.3826G>C | |
| NG_008915.1:g.6453C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.27C>G MANE Select | ENSP00000373620.3:p.Arg9= | |
| ENST00000418022.2:c.27C>G | ENSP00000412227.2:p.Arg9= | |
| ENST00000426480.2:c.27C>G | ENSP00000414446.2:p.Arg9= | |
| ENST00000428204.6:c.27C>G | ENSP00000396460.2:p.Arg9= | |
| ENST00000430176.6:c.27C>G | ENSP00000393670.2:p.Arg9= | |
| ENST00000439605.2:c.27C>G | ENSP00000402478.2:p.Arg9= | |
| ENST00000440114.2:c.27C>G | ENSP00000390404.1:p.Arg9= | |
| ENST00000452200.6:c.27C>G | ENSP00000412717.2:p.Arg9= | |
| ENST00000461097.2:n.65C>G | ||
| ENST00000476746.6:n.128C>G | ||
| ENST00000676933.1:c.27C>G | ENSP00000503144.1:p.Arg9= | |
| ENST00000677403.1:c.27C>G | ENSP00000504667.1:p.Arg9= | |
| ENST00000677454.1:c.27C>G | ENSP00000503295.1:p.Arg9= | |
| ENST00000677792.1:c.27C>G | ENSP00000504645.1:p.Arg9= | |
| ENST00000677913.1:c.27C>G | ENSP00000503139.1:p.Arg9= | |
| ENST00000678170.1:c.27C>G | ENSP00000503910.1:p.Arg9= | |
| ENST00000678545.1:c.27C>G | ENSP00000502920.1:p.Arg9= | |
| ENST00000678621.1:c.27C>G | ENSP00000504328.1:p.Arg9= | |
| ENST00000678761.1:c.27C>G | ENSP00000503894.1:p.Arg9= | |
| ENST00000678969.1:n.127C>G | ||
| ENST00000679291.1:c.27C>G | ENSP00000504417.1:p.Arg9= | |
| ENST00000345042.6:c.27C>G | ENSP00000340019.2:p.Arg9= | |
| ENST00000388968.7:c.27C>G | ENSP00000373620.3:p.Arg9= | |
| ENST00000418022.1:c.27C>G | ENSP00000412227.1:p.Arg9= | |
| ENST00000426480.1:c.153C>G | ENSP00000414446.1:p.Arg51= | |
| ENST00000428204.5:c.27C>G | ENSP00000396460.1:p.Arg9= | |
| ENST00000430176.5:c.27C>G | ENSP00000393670.1:p.Arg9= | |
| ENST00000439605.1:c.27C>G | ENSP00000402478.1:p.Arg9= | |
| ENST00000440114.1:c.27C>G | ENSP00000390404.1:p.Arg9= | |
| ENST00000452200.5:c.27C>G | ENSP00000412717.1:p.Arg9= | |
| ENST00000461097.1:n.65C>G | ||
| ENST00000476746.5:n.127C>G | ||
| NM_002156.4:c.27C>G | NP_002147.2:p.Arg9= | |
| NM_199440.1:c.27C>G | NP_955472.1:p.Arg9= | |
| XM_005246518.2:c.27C>G | XP_005246575.1:p.Arg9= | |
| NM_002156.5:c.27C>G MANE Select | NP_002147.2:p.Arg9= | |
| NM_199440.2:c.27C>G | NP_955472.1:p.Arg9= |