Linked Data
ClinVar Variation Id:
15994
ClinVar RCV Id:
RCV000017365
dbSNP Id:
rs121918121
gnomAD v2:
7-31016054-A-G
gnomAD v4:
7-30976439-A-G
PubMed:
PMID:11875102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30976439A>G , CM000669.2:g.30976439A>G | GRCh38 |
| NC_000007.13:g.31016054A>G , CM000669.1:g.31016054A>G | GRCh37 |
| NC_000007.12:g.30982579A>G | NCBI36 |
| NG_021416.1:g.17419A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326139.7:c.985A>G MANE Select | ENSP00000320180.2:p.Lys329Glu | |
| ENST00000326139.6:c.985A>G | ENSP00000320180.2:p.Lys329Glu | |
| ENST00000337750.9:c.*201A>G | ENSP00000338184.4:n.*201A>G | |
| ENST00000396227.6:c.*201A>G | ENSP00000379529.2:n.*201A>G | |
| ENST00000409316.5:c.284A>G | ENSP00000386602.1:p.Gln95Arg | |
| ENST00000409904.7:c.793A>G | ENSP00000387113.3:p.Lys265Glu | |
| ENST00000461424.5:n.561A>G | ||
| ENST00000463164.1:n.11A>G | ||
| ENST00000611037.1:c.431A>G | ENSP00000480159.1:p.Gln144Arg | |
| NM_000823.3:c.985A>G | NP_000814.2:p.Lys329Glu | |
| XM_011515263.1:c.793A>G | XP_011513565.1:p.Lys265Glu | |
| NM_000823.4:c.985A>G MANE Select | NP_000814.2:p.Lys329Glu |