Linked Data
ClinVar Variation Id:
1941143
ClinVar RCV Id:
RCV002675557
dbSNP Id:
rs1752784868
gnomAD v4:
5-132393756-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393756G>C , CM000667.2:g.132393756G>C | GRCh38 |
| NC_000005.9:g.131729448G>C , CM000667.1:g.131729448G>C | GRCh37 |
| NC_000005.8:g.131757347G>C | NCBI36 |
| NG_008982.1:g.29048G>C | |
| NG_008982.2:g.29053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-429G>C | ENSP00000388838.2:n.1292-429G>C | |
| ENST00000435065.7:c.1603G>C | ENSP00000402760.2:p.Glu535Gln | |
| ENST00000448810.6:c.*383G>C | ENSP00000401860.2:n.*383G>C | |
| ENST00000685543.1:n.1672G>C | ||
| ENST00000686757.1:c.*695G>C | ENSP00000510721.1:n.*695G>C | |
| ENST00000686868.1:n.523G>C | ||
| ENST00000687740.1:n.4216G>C | ||
| ENST00000688151.1:n.2841G>C | ||
| ENST00000689271.1:c.1378G>C | ENSP00000510797.1:p.Glu460Gln | |
| ENST00000690900.1:c.*695G>C | ENSP00000510703.1:n.*695G>C | |
| ENST00000692212.1:n.4671G>C | ||
| ENST00000692355.1:c.784G>C | ||
| ENST00000692413.1:c.1513G>C | ENSP00000509374.1:p.Glu505Gln | |
| ENST00000692825.1:c.1599G>C | ENSP00000509447.1:n.1599G>C | |
| ENST00000693308.1:c.1579G>C | ENSP00000509770.1:p.Glu527Gln | |
| ENST00000693763.1:n.2691G>C | ||
| ENST00000245407.8:c.1531G>C MANE Select | ENSP00000245407.3:p.Glu511Gln | |
| ENST00000245407.7:c.1531G>C | ENSP00000245407.3:p.Glu511Gln | |
| ENST00000435065.6:c.1603G>C | ENSP00000402760.2:p.Glu535Gln | |
| ENST00000447841.5:c.375G>C | ||
| ENST00000448810.5:c.793G>C | ||
| ENST00000461013.5:n.8953G>C | ||
| ENST00000475308.1:n.2209G>C | ||
| NM_001308122.1:c.1603G>C | NP_001295051.1:p.Glu535Gln | |
| NM_003060.3:c.1531G>C | NP_003051.1:p.Glu511Gln | |
| XM_011543590.1:c.913G>C | XP_011541892.1:p.Glu305Gln | |
| XR_948290.1:n.1657G>C | ||
| XM_011543590.2:c.913G>C | XP_011541892.1:p.Glu305Gln | |
| XM_017009778.2:c.1003G>C | XP_016865267.1:p.Glu335Gln | |
| XR_001742215.1:n.1786G>C | ||
| XR_001742216.1:n.1805G>C | ||
| XR_427718.2:n.1891G>C | ||
| XR_948290.2:n.1657G>C | ||
| XR_948291.2:n.1885G>C | ||
| NM_003060.4:c.1531G>C MANE Select | NP_003051.1:p.Glu511Gln | |
| NM_001308122.2:c.1603G>C | NP_001295051.1:p.Glu535Gln |