Linked Data
ClinVar Variation Id:
4888
dbSNP Id:
rs104894195
ExAC:
11:67258381 C / T
gnomAD v2:
11-67258381-C-T
gnomAD v3:
11-67490910-C-T
gnomAD v4:
11-67490910-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490910C>T , CM000673.2:g.67490910C>T | GRCh38 |
| NC_000011.9:g.67258381C>T , CM000673.1:g.67258381C>T | GRCh37 |
| NC_000011.8:g.67014957C>T | NCBI36 |
| NG_008969.1:g.12877C>T , LRG_460:g.12877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1217C>T | ||
| ENST00000528641.7:c.721C>T | ENSP00000434982.3:p.Arg241Ter | |
| ENST00000529797.2:n.1752C>T | ||
| ENST00000682324.1:c.469-87C>T | ENSP00000508017.1:n.469-87C>T | |
| ENST00000682659.1:c.541C>T | ENSP00000507351.1:p.Arg181Ter | |
| ENST00000682699.1:c.910C>T | ENSP00000507935.1:p.Arg304Ter | |
| ENST00000683237.1:c.*50C>T | ENSP00000507343.1:n.*50C>T | |
| ENST00000683856.1:c.733C>T | ENSP00000507979.1:p.Arg245Ter | |
| ENST00000684006.1:c.*50C>T | ENSP00000507269.1:n.*50C>T | |
| ENST00000684657.1:c.730C>T | ENSP00000507961.1:p.Arg244Ter | |
| ENST00000279146.8:c.910C>T MANE Select | ENSP00000279146.3:p.Arg304Ter | |
| ENST00000279146.7:c.910C>T | ENSP00000279146.3:p.Arg304Ter | |
| NM_001302959.1:c.733C>T | NP_001289888.1:p.Arg245Ter | |
| NM_001302960.1:c.*50C>T | NP_001289889.1:n.*50C>T | |
| NM_003977.3:c.910C>T | NP_003968.3:p.Arg304Ter | |
| XM_024448761.1:c.910C>T | XP_024304529.1:p.Arg304Ter | |
| NM_003977.4:c.910C>T MANE Select | NP_003968.3:p.Arg304Ter | |
| NM_001302960.2:c.*50C>T | NP_001289889.1:n.*50C>T | |
| NM_001302959.2:c.733C>T | NP_001289888.1:p.Arg245Ter |