Linked Data
dbSNP Id:
rs376071269
ExAC:
2:170115562 C / T
gnomAD v2:
2-170115562-C-T
gnomAD v3:
2-169259052-C-T
gnomAD v4:
2-169259052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259052C>T , CM000664.2:g.169259052C>T | GRCh38 |
| NC_000002.11:g.170115562C>T , CM000664.1:g.170115562C>T | GRCh37 |
| NC_000002.10:g.169823808C>T | NCBI36 |
| NG_012634.1:g.108561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2486G>A MANE Select | ENSP00000496870.1:p.Arg829Gln | |
| ENST00000263816.7:c.2486G>A | ENSP00000263816.3:p.Arg829Gln | |
| ENST00000443831.1:c.2075G>A | ENSP00000409813.1:p.Arg692Gln | |
| NM_004525.2:c.2486G>A | NP_004516.2:p.Arg829Gln | |
| XM_011511183.1:c.2486G>A | XP_011509485.1:p.Arg829Gln | |
| XM_011511184.1:c.197G>A | XP_011509486.1:p.Arg66Gln | |
| XM_011511185.1:c.2486G>A | XP_011509487.1:p.Arg829Gln | |
| NM_004525.3:c.2486G>A MANE Select | NP_004516.2:p.Arg829Gln | |
| XM_011511183.3:c.2486G>A | XP_011509485.1:p.Arg829Gln | |
| XM_011511184.2:c.197G>A | XP_011509486.1:p.Arg66Gln |