Linked Data
ClinVar Variation Id:
44654
ClinVar RCV Id:
RCV000037732
dbSNP Id:
rs397516838
PubMed:
PMID:21098638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674132G>C , CM000665.2:g.30674132G>C | GRCh38 |
| NC_000003.11:g.30715624G>C , CM000665.1:g.30715624G>C | GRCh37 |
| NC_000003.10:g.30690628G>C | NCBI36 |
| NG_007490.1:g.72631G>C , LRG_779:g.72631G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1282G>C MANE Select | ENSP00000295754.5:p.Glu428Gln | |
| ENST00000672866.1:n.2878G>C | ||
| ENST00000673203.1:n.160G>C | ||
| ENST00000295754.9:c.1282G>C | ENSP00000295754.5:p.Glu428Gln | |
| ENST00000359013.4:c.1357G>C | ENSP00000351905.4:p.Glu453Gln | |
| NM_001024847.2:c.1357G>C , LRG_779t1:c.1357G>C | NP_001020018.1:p.Glu453Gln | |
| NM_003242.5:c.1282G>C | NP_003233.4:p.Glu428Gln | |
| XM_011534043.1:c.1309G>C | XP_011532345.1:p.Glu437Gln | |
| XM_011534044.1:c.1234G>C | XP_011532346.1:p.Glu412Gln | |
| XM_011534045.1:c.1177G>C | XP_011532347.1:p.Glu393Gln | |
| XM_011534043.2:c.1309G>C | XP_011532345.1:p.Glu437Gln | |
| XM_011534045.3:c.1177G>C | XP_011532347.1:p.Glu393Gln | |
| XM_017007106.1:c.1177G>C | XP_016862595.1:p.Glu393Gln | |
| NM_003242.6:c.1282G>C MANE Select | NP_003233.4:p.Glu428Gln |