Linked Data
dbSNP Id:
rs1811934800
gnomAD v4:
10-49470723-T-C
MyVariant Identifiers:
chr10:g.50678769T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470723T>C , CM000672.2:g.49470723T>C | GRCh38 |
| NC_000010.10:g.50678769T>C , CM000672.1:g.50678769T>C | GRCh37 |
| NC_000010.9:g.50348775T>C | NCBI36 |
| NG_009442.1:g.73379A>G , LRG_465:g.73379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3237A>G MANE Select | ENSP00000348089.5:p.Glu1079= | |
| ENST00000679552.1:n.308A>G | ||
| ENST00000679871.1:n.383A>G | ||
| ENST00000679974.1:n.286A>G | ||
| ENST00000681632.1:n.4640A>G | ||
| ENST00000681659.1:c.3078A>G | ENSP00000505631.1:p.Glu1026= | |
| ENST00000355832.9:c.3237A>G | ENSP00000348089.5:p.Glu1079= | |
| ENST00000623073.3:c.*1533A>G | ENSP00000485650.1:n.*1533A>G | |
| ENST00000623115.3:c.1347A>G | ENSP00000485321.1:p.Glu449= | |
| ENST00000624341.3:c.1069A>G | ||
| NM_000124.3:c.3237A>G | NP_000115.1:p.Glu1079= | |
| XR_945953.1:n.243-842T>C | ||
| NM_001346440.1:c.3237A>G | NP_001333369.1:p.Glu1079= | |
| NM_000124.4:c.3237A>G MANE Select | NP_000115.1:p.Glu1079= | |
| NM_001346440.2:c.3237A>G | NP_001333369.1:p.Glu1079= |