Linked Data
dbSNP Id:
rs1850582742
gnomAD v3:
10-49461495-T-C
gnomAD v4:
10-49461495-T-C
MyVariant Identifiers:
chr10:g.50669541T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461495T>C , CM000672.2:g.49461495T>C | GRCh38 |
| NC_000010.10:g.50669541T>C , CM000672.1:g.50669541T>C | GRCh37 |
| NC_000010.9:g.50339547T>C | NCBI36 |
| NG_009442.1:g.82607A>G , LRG_465:g.82607A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3840A>G MANE Select | ENSP00000348089.5:p.Val1280= | |
| ENST00000679552.1:n.911A>G | ||
| ENST00000679871.1:n.986A>G | ||
| ENST00000679974.1:n.889A>G | ||
| ENST00000681632.1:n.5243A>G | ||
| ENST00000681659.1:c.3681A>G | ENSP00000505631.1:p.Val1227= | |
| ENST00000355832.9:c.3840A>G | ENSP00000348089.5:p.Val1280= | |
| ENST00000465653.1:n.162A>G | ||
| ENST00000623073.3:c.*2136A>G | ENSP00000485650.1:n.*2136A>G | |
| ENST00000623115.3:c.1950A>G | ENSP00000485321.1:p.Val650= | |
| ENST00000624341.3:c.1672A>G | ||
| NM_000124.3:c.3840A>G | NP_000115.1:p.Val1280= | |
| XR_945953.1:n.243-10070T>C | ||
| NM_001346440.1:c.3840A>G | NP_001333369.1:p.Val1280= | |
| NM_000124.4:c.3840A>G MANE Select | NP_000115.1:p.Val1280= | |
| NM_001346440.2:c.3840A>G | NP_001333369.1:p.Val1280= |