Linked Data
dbSNP Id:
rs2150896449
gnomAD v4:
3-124737800-G-A
MyVariant Identifiers:
chr3:g.124456647G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737800G>A , CM000665.2:g.124737800G>A | GRCh38 |
| NC_000003.11:g.124456647G>A , CM000665.1:g.124456647G>A | GRCh37 |
| NC_000003.10:g.125939337G>A | NCBI36 |
| NG_017037.1:g.12435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.543G>A MANE Select | ENSP00000232607.2:p.Glu181= | |
| ENST00000232607.6:c.543G>A | ENSP00000232607.2:p.Glu181= | |
| ENST00000460034.5:c.*287G>A | ENSP00000420409.1:n.*287G>A | |
| ENST00000462091.5:c.*215G>A | ENSP00000417893.1:n.*215G>A | |
| ENST00000467167.5:c.*441G>A | ENSP00000419618.1:n.*441G>A | |
| ENST00000474588.5:c.311-115G>A | ENSP00000420348.1:n.311-115G>A | |
| ENST00000479719.5:c.543G>A | ENSP00000420754.1:p.Glu181= | |
| ENST00000497791.5:c.*215G>A | ENSP00000419121.1:n.*215G>A | |
| ENST00000498715.1:n.261G>A | ||
| NM_000373.3:c.543G>A | NP_000364.1:p.Glu181= | |
| NR_033434.1:n.495G>A | ||
| NR_033437.1:n.748G>A | ||
| XR_001740253.2:n.573G>A | ||
| NM_000373.4:c.543G>A MANE Select | NP_000364.1:p.Glu181= | |
| NR_033434.2:n.409G>A | ||
| NR_033437.2:n.662G>A |