Linked Data
dbSNP Id:
rs199660119
ExAC:
19:3595866 G / C
gnomAD v2:
19-3595866-G-C
gnomAD v3:
19-3595868-G-C
gnomAD v4:
19-3595868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595868G>C , CM000681.2:g.3595868G>C | GRCh38 |
| NC_000019.9:g.3595866G>C , CM000681.1:g.3595866G>C | GRCh37 |
| NC_000019.8:g.3546866G>C | NCBI36 |
| NG_013363.1:g.15966C>G , LRG_578:g.15966C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.852C>G MANE Select | ENSP00000364336.4:p.Arg284= | |
| ENST00000375190.8:c.852C>G | ENSP00000364336.3:p.Arg284= | |
| ENST00000411851.3:c.852C>G | ENSP00000393333.2:p.Arg284= | |
| ENST00000589966.1:c.463C>G | ENSP00000468145.1:p.His155Asp | |
| NM_001060.5:c.852C>G , LRG_578t1:c.852C>G | NP_001051.1:p.Arg284= | |
| NM_201636.2:c.852C>G | NP_963998.2:p.Arg284= | |
| XM_011528214.1:c.852C>G | XP_011526516.1:p.Arg284= | |
| XM_011528214.2:c.852C>G | XP_011526516.1:p.Arg284= | |
| NM_001060.6:c.852C>G MANE Select | NP_001051.1:p.Arg284= | |
| NM_201636.3:c.852C>G | NP_963998.2:p.Arg284= |