Linked Data
ClinVar Variation Id:
1771276
ClinVar RCV Id:
RCV002381154
dbSNP Id:
rs1189258970
gnomAD v4:
3-30674230-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674230C>G , CM000665.2:g.30674230C>G | GRCh38 |
| NC_000003.11:g.30715722C>G , CM000665.1:g.30715722C>G | GRCh37 |
| NC_000003.10:g.30690726C>G | NCBI36 |
| NG_007490.1:g.72729C>G , LRG_779:g.72729C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1380C>G MANE Select | ENSP00000295754.5:p.Arg460= | |
| ENST00000672866.1:n.2976C>G | ||
| ENST00000673203.1:n.258C>G | ||
| ENST00000295754.9:c.1380C>G | ENSP00000295754.5:p.Arg460= | |
| ENST00000359013.4:c.1455C>G | ENSP00000351905.4:p.Arg485= | |
| NM_001024847.2:c.1455C>G , LRG_779t1:c.1455C>G | NP_001020018.1:p.Arg485= | |
| NM_003242.5:c.1380C>G | NP_003233.4:p.Arg460= | |
| XM_011534043.1:c.1407C>G | XP_011532345.1:p.Arg469= | |
| XM_011534044.1:c.1332C>G | XP_011532346.1:p.Arg444= | |
| XM_011534045.1:c.1275C>G | XP_011532347.1:p.Arg425= | |
| XM_011534043.2:c.1407C>G | XP_011532345.1:p.Arg469= | |
| XM_011534045.3:c.1275C>G | XP_011532347.1:p.Arg425= | |
| XM_017007106.1:c.1275C>G | XP_016862595.1:p.Arg425= | |
| NM_003242.6:c.1380C>G MANE Select | NP_003233.4:p.Arg460= |