Linked Data
ClinVar Variation Id:
1430645
ClinVar RCV Id:
RCV001948405
dbSNP Id:
rs773743636
ExAC:
2:170011077 C / T
gnomAD v2:
2-170011077-C-T
gnomAD v3:
2-169154567-C-T
gnomAD v4:
2-169154567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154567C>T , CM000664.2:g.169154567C>T | GRCh38 |
| NC_000002.11:g.170011077C>T , CM000664.1:g.170011077C>T | GRCh37 |
| NC_000002.10:g.169719323C>T | NCBI36 |
| NG_012634.1:g.213046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12188G>A MANE Select | ENSP00000496870.1:p.Arg4063Gln | |
| ENST00000649153.1:c.3088G>A | ||
| ENST00000650252.1:c.1216G>A | ENSP00000496887.1:p.Glu406Lys | |
| ENST00000263816.7:c.12188G>A | ENSP00000263816.3:p.Arg4063Gln | |
| NM_004525.2:c.12188G>A | NP_004516.2:p.Arg4063Gln | |
| XM_011511183.1:c.12059G>A | XP_011509485.1:p.Arg4020Gln | |
| XM_011511184.1:c.9899G>A | XP_011509486.1:p.Arg3300Gln | |
| NM_004525.3:c.12188G>A MANE Select | NP_004516.2:p.Arg4063Gln | |
| XM_011511183.3:c.12059G>A | XP_011509485.1:p.Arg4020Gln | |
| XM_011511184.2:c.9899G>A | XP_011509486.1:p.Arg3300Gln |