Linked Data
ClinVar Variation Id:
908202
ClinVar RCV Id:
RCV001158555
dbSNP Id:
rs1803406966
gnomAD v4:
7-143351613-G-A
COSMIC:
COSM3635207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351613G>A , CM000669.2:g.143351613G>A | GRCh38 |
| NC_000007.13:g.143048706G>A , CM000669.1:g.143048706G>A | GRCh37 |
| NC_000007.12:g.142758828G>A | NCBI36 |
| NG_009815.1:g.40488G>A | |
| NG_009815.2:g.40488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2615G>A | ENSP00000498052.2:p.Gly872Glu | |
| ENST00000343257.7:c.2615G>A MANE Select | ENSP00000339867.2:p.Gly872Glu | |
| ENST00000432192.6:c.2439G>A | ||
| ENST00000343257.6:c.2615G>A | ENSP00000339867.2:p.Gly872Glu | |
| NM_000083.2:c.2615G>A | NP_000074.2:p.Gly872Glu | |
| NR_046453.1:n.2555G>A | ||
| XM_011515781.1:c.2639G>A | XP_011514083.1:p.Gly880Glu | |
| XM_011515782.1:c.1361G>A | XP_011514084.1:p.Gly454Glu | |
| XM_011515782.2:c.1361G>A | XP_011514084.1:p.Gly454Glu | |
| XM_017011739.1:c.2189G>A | XP_016867228.1:p.Gly730Glu | |
| XM_017011740.1:c.2165G>A | XP_016867229.1:p.Gly722Glu | |
| NM_000083.3:c.2615G>A MANE Select | NP_000074.3:p.Gly872Glu | |
| NR_046453.2:n.2570G>A |