Linked Data
ClinVar Variation Id:
953107
ClinVar RCV Id:
RCV001225350
dbSNP Id:
rs767383372
ExAC:
11:45931810 C / G
gnomAD v2:
11-45931810-C-G
gnomAD v4:
11-45910259-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910259C>G , CM000673.2:g.45910259C>G | GRCh38 |
| NC_000011.9:g.45931810C>G , CM000673.1:g.45931810C>G | GRCh37 |
| NC_000011.8:g.45888386C>G | NCBI36 |
| NG_008460.1:g.12865G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.1006G>C MANE Select | ENSP00000368024.5:p.Gly336Arg | |
| ENST00000241041.7:c.953-82G>C | ENSP00000241041.3:n.953-82G>C | |
| ENST00000378750.9:c.1006G>C | ENSP00000368024.5:p.Gly336Arg | |
| ENST00000523721.2:n.236G>C | ||
| ENST00000532681.5:c.721G>C | ENSP00000434654.1:p.Gly241Arg | |
| NM_004813.2:c.1006G>C | NP_004804.1:p.Gly336Arg | |
| NM_057174.2:c.953-82G>C | NP_476515.1:n.953-82G>C | |
| XM_011520474.1:c.883G>C | XP_011518776.1:p.Gly295Arg | |
| NM_004813.3:c.1006G>C | NP_004804.1:p.Gly336Arg | |
| NM_004813.4:c.1006G>C MANE Select | NP_004804.2:p.Gly336Arg | |
| NM_057174.3:c.953-82G>C | NP_476515.2:n.953-82G>C |