Linked Data
ClinVar Variation Id:
2176567
ClinVar RCV Id:
RCV002610225
dbSNP Id:
rs374237906
ExAC:
11:726634 G / A
gnomAD v2:
11-726634-G-A
gnomAD v3:
11-726634-G-A
gnomAD v4:
11-726634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.726634G>A , CM000673.2:g.726634G>A | GRCh38 |
| NC_000011.9:g.726634G>A , CM000673.1:g.726634G>A | GRCh37 |
| NC_000011.8:g.716634G>A | NCBI36 |
| NG_051601.1:g.26418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318562.13:c.1950G>A MANE Select | ENSP00000320828.8:p.Leu650= | |
| ENST00000650127.1:c.1950G>A | ENSP00000497389.1:p.Leu650= | |
| ENST00000318562.12:c.1950G>A | ENSP00000320828.8:p.Leu650= | |
| ENST00000526198.5:c.1998G>A | ENSP00000436230.1:p.Leu666= | |
| ENST00000526909.5:c.*2655G>A | ENSP00000433173.1:n.*2655G>A | |
| ENST00000527832.5:n.658G>A | ||
| ENST00000528770.5:c.1293G>A | ||
| ENST00000530636.5:c.1950G>A | ENSP00000436035.1:p.Leu650= | |
| ENST00000531393.5:n.1366G>A | ||
| ENST00000533256.5:c.1950G>A | ENSP00000435585.1:p.Leu650= | |
| ENST00000534027.1:n.74G>A | ||
| ENST00000534449.1:n.8G>A | ||
| ENST00000534679.1:n.420G>A | ||
| ENST00000610855.4:c.*89G>A | ENSP00000480704.1:n.*89G>A | |
| ENST00000614442.4:c.1998G>A | ENSP00000480201.1:p.Leu666= | |
| NM_022772.3:c.1950G>A | NP_073609.2:p.Leu650= | |
| XM_017018131.1:c.1950G>A | XP_016873620.1:p.Leu650= | |
| XM_017018132.1:c.1950G>A | XP_016873621.1:p.Leu650= | |
| NM_022772.4:c.1950G>A MANE Select | NP_073609.2:p.Leu650= |