Linked Data
dbSNP Id:
rs766503255
ExAC:
17:42449776 G / T
gnomAD v2:
17-42449776-G-T
gnomAD v4:
17-44372408-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372408G>T , CM000679.2:g.44372408G>T | GRCh38 |
| NC_000017.10:g.42449776G>T , CM000679.1:g.42449776G>T | GRCh37 |
| NC_000017.9:g.39805302G>T | NCBI36 |
| NG_008331.1:g.22098C>A , LRG_479:g.22098C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.3076C>A MANE Select | ENSP00000262407.5:p.Arg1026= | |
| ENST00000648408.1:c.2390C>A | ||
| ENST00000262407.5:c.3076C>A | ENSP00000262407.5:p.Arg1026= | |
| ENST00000587295.5:c.269C>A | ||
| ENST00000588098.1:c.53C>A | ||
| NM_000419.3:c.3076C>A , LRG_479t1:c.3076C>A | NP_000410.2:p.Arg1026= | |
| XM_011524749.1:c.2974C>A | XP_011523051.1:p.Arg992= | |
| XM_011524750.1:c.2959C>A | XP_011523052.1:p.Arg987= | |
| NM_000419.4:c.3076C>A | NP_000410.2:p.Arg1026= | |
| NM_000419.5:c.3076C>A MANE Select | NP_000410.2:p.Arg1026= |