Linked Data
ClinVar Variation Id:
403103
ClinVar RCV Id:
RCV000454644
dbSNP Id:
rs2509943
ExAC:
11:94231257 C / G
gnomAD v2:
11-94231257-C-G
gnomAD v3:
11-94498091-C-G
gnomAD v4:
11-94498091-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94498091C>G , CM000673.2:g.94498091C>G | GRCh38 |
| NC_000011.9:g.94231257C>G , CM000673.1:g.94231257C>G | GRCh37 |
| NC_000011.8:g.93870905C>G | NCBI36 |
| NG_007261.1:g.784G>C , LRG_85:g.784G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544612.6:c.279C>G (ANKRD49) MANE Select | ENSP00000440396.1:p.Leu93= | |
| ENST00000302755.4:c.279C>G (ANKRD49) | ENSP00000303518.3:p.Leu93= | |
| ENST00000534911.1:c.*68C>G (ANKRD49) | ENSP00000444030.1:n.*68C>G | |
| ENST00000535502.1:c.156C>G (ANKRD49) | ENSP00000442449.1:p.Leu52= | |
| ENST00000538535.1:n.663C>G (ANKRD49) | ||
| ENST00000539883.1:n.528C>G (ANKRD49) | ||
| ENST00000540349.1:c.*27C>G (ANKRD49) | ENSP00000438506.1:n.*27C>G | |
| ENST00000544253.1:c.*1020C>G (ANKRD49) | ENSP00000446433.1:n.*1020C>G | |
| ENST00000544514.1:c.*81C>G (ANKRD49) | ENSP00000445597.1:n.*81C>G | |
| ENST00000544612.5:c.279C>G (ANKRD49) | ENSP00000440396.1:p.Leu93= | |
| ENST00000545130.5:c.384C>G (ANKRD49) | ENSP00000441877.1:p.Leu128= | |
| NM_017704.2:c.279C>G (ANKRD49) | NP_060174.2:p.Leu93= | |
| XM_011542837.1:c.-105-5185G>C (MRE11) | XP_011541139.1:n.-105-5185G>C | |
| XM_011542837.2:c.-105-5185G>C (MRE11) | XP_011541139.1:n.-105-5185G>C | |
| XM_017017941.1:c.279C>G (ANKRD49) | XP_016873430.1:p.Leu93= | |
| NM_017704.3:c.279C>G (ANKRD49) MANE Select | NP_060174.2:p.Leu93= |