Linked Data
ClinVar Variation Id:
2052827
ClinVar RCV Id:
RCV002937742
gnomAD v4:
7-12218459-G-A
MyVariant Identifiers:
chr7:g.12258085G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12218459G>A , CM000669.2:g.12218459G>A | GRCh38 |
| NC_000007.13:g.12258085G>A , CM000669.1:g.12258085G>A | GRCh37 |
| NC_000007.12:g.12224610G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444443.6:c.219G>A | ENSP00000401302.2:p.Gly73= | |
| ENST00000704347.1:c.219G>A | ENSP00000515858.1:p.Gly73= | |
| ENST00000704348.1:c.219G>A | ENSP00000515859.1:p.Gly73= | |
| ENST00000704349.1:c.219G>A | ENSP00000515860.1:p.Gly73= | |
| ENST00000704382.1:n.353G>A | ||
| ENST00000704416.1:c.-13-5767G>A | ENSP00000515892.1:n.-13-5767G>A | |
| ENST00000704417.1:c.144G>A | ENSP00000515893.1:p.Gly48= | |
| ENST00000704455.1:c.219G>A | ENSP00000515905.1:p.Gly73= | |
| ENST00000704457.1:c.219G>A | ENSP00000515907.1:p.Gly73= | |
| ENST00000396668.8:c.219G>A MANE Select | ENSP00000379902.3:p.Gly73= | |
| ENST00000396667.7:c.219G>A | ENSP00000379901.2:p.Gly73= | |
| ENST00000396668.7:c.219G>A | ENSP00000379902.3:p.Gly73= | |
| ENST00000420833.5:c.*105G>A | ENSP00000391016.1:n.*105G>A | |
| ENST00000444443.5:c.219G>A | ENSP00000401302.1:p.Gly73= | |
| NM_001134232.1:c.219G>A | NP_001127704.1:p.Gly73= | |
| NM_018374.3:c.219G>A | NP_060844.2:p.Gly73= | |
| XM_005249789.1:c.219G>A | XP_005249846.1:p.Gly73= | |
| NM_001134232.2:c.219G>A MANE Select | NP_001127704.1:p.Gly73= | |
| NM_018374.4:c.219G>A | NP_060844.2:p.Gly73= |