Linked Data
ClinVar Variation Id:
375892
ClinVar RCV Id:
RCV000417625
RCV000418685
RCV000419742
RCV000424071
RCV000425039
RCV000427476
RCV000427882
RCV000428941
RCV000434778
RCV000435299
RCV000436387
RCV000437708
RCV000440922
RCV000442058
RCV000444712
dbSNP Id:
rs121913499
gnomAD v2:
2-209113113-G-C
gnomAD v4:
2-208248389-G-C
COSMIC:
COSM28749
CIViC:
CA16602375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248389G>C , CM000664.2:g.208248389G>C | GRCh38 |
| NC_000002.11:g.209113113G>C , CM000664.1:g.209113113G>C | GRCh37 |
| NC_000002.10:g.208821358G>C | NCBI36 |
| NG_023319.2:g.22686C>G , LRG_610:g.22686C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.394C>G MANE Select | ENSP00000260985.2:p.Arg132Gly | |
| ENST00000345146.6:c.394C>G | ENSP00000260985.2:p.Arg132Gly | |
| ENST00000415282.5:c.394C>G | ENSP00000391075.1:p.Arg132Gly | |
| ENST00000415913.5:c.394C>G | ENSP00000390265.1:p.Arg132Gly | |
| ENST00000446179.5:c.394C>G | ENSP00000410513.1:p.Arg132Gly | |
| ENST00000462386.5:n.607C>G | ||
| NM_001282386.1:c.394C>G , LRG_610t3:c.394C>G | NP_001269315.1:p.Arg132Gly | |
| NM_001282387.1:c.394C>G , LRG_610t2:c.394C>G | NP_001269316.1:p.Arg132Gly | |
| NM_005896.3:c.394C>G , LRG_610t1:c.394C>G | NP_005887.2:p.Arg132Gly | |
| NM_005896.4:c.394C>G MANE Select | NP_005887.2:p.Arg132Gly |