Linked Data
ClinVar Variation Id:
1565789
ClinVar RCV Id:
RCV002218491
dbSNP Id:
rs2125434537
MyVariant Identifiers:
chr3:g.30713500A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672008A>G , CM000665.2:g.30672008A>G | GRCh38 |
| NC_000003.11:g.30713500A>G , CM000665.1:g.30713500A>G | GRCh37 |
| NC_000003.10:g.30688504A>G | NCBI36 |
| NG_007490.1:g.70507A>G , LRG_779:g.70507A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.825A>G MANE Select | ENSP00000295754.5:p.Ala275= | |
| ENST00000672866.1:n.2421A>G | ||
| ENST00000295754.9:c.825A>G | ENSP00000295754.5:p.Ala275= | |
| ENST00000359013.4:c.900A>G | ENSP00000351905.4:p.Ala300= | |
| NM_001024847.2:c.900A>G , LRG_779t1:c.900A>G | NP_001020018.1:p.Ala300= | |
| NM_003242.5:c.825A>G | NP_003233.4:p.Ala275= | |
| XM_011534043.1:c.852A>G | XP_011532345.1:p.Ala284= | |
| XM_011534044.1:c.777A>G | XP_011532346.1:p.Ala259= | |
| XM_011534045.1:c.720A>G | XP_011532347.1:p.Ala240= | |
| XM_011534043.2:c.852A>G | XP_011532345.1:p.Ala284= | |
| XM_011534045.3:c.720A>G | XP_011532347.1:p.Ala240= | |
| XM_017007106.1:c.720A>G | XP_016862595.1:p.Ala240= | |
| NM_003242.6:c.825A>G MANE Select | NP_003233.4:p.Ala275= |