Linked Data
ClinVar Variation Id:
355564
dbSNP Id:
rs11575931
ExAC:
6:137540417 C / T
gnomAD v2:
6-137540417-C-T
gnomAD v3:
6-137219280-C-T
gnomAD v4:
6-137219280-C-T
COSMIC:
COSM3683969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137219280C>T , CM000668.2:g.137219280C>T | GRCh38 |
| NC_000006.11:g.137540417C>T , CM000668.1:g.137540417C>T | GRCh37 |
| NC_000006.10:g.137582110C>T | NCBI36 |
| NG_007394.1:g.5151G>A , LRG_66:g.5151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.-94G>A | ENSP00000394230.2:n.-94G>A | |
| ENST00000458076.6:c.48G>A | ENSP00000389249.2:p.Arg16= | |
| ENST00000696694.1:c.48G>A | ENSP00000512815.1:p.Arg16= | |
| ENST00000696695.1:c.48G>A | ENSP00000512816.1:p.Arg16= | |
| ENST00000696696.1:c.48G>A | ENSP00000512817.1:p.Arg16= | |
| ENST00000696697.1:c.-200G>A | ENSP00000512818.1:n.-200G>A | |
| ENST00000696698.1:c.48G>A | ENSP00000512819.1:p.Arg16= | |
| ENST00000367739.9:c.48G>A MANE Select | ENSP00000356713.5:p.Arg16= | |
| ENST00000643119.1:c.33G>A | ENSP00000495934.1:p.Arg11= | |
| ENST00000645045.1:c.34G>A | ||
| ENST00000367739.8:c.48G>A | ENSP00000356713.4:p.Arg16= | |
| ENST00000414770.5:c.-94G>A | ENSP00000394230.1:n.-94G>A | |
| ENST00000458076.5:c.48G>A | ENSP00000389249.1:p.Arg16= | |
| ENST00000478333.1:n.170G>A | ||
| ENST00000543628.5:c.48G>A | ENSP00000443282.2:p.Arg16= | |
| NM_000416.2:c.48G>A , LRG_66t1:c.48G>A | NP_000407.1:p.Arg16= | |
| XM_011535793.1:c.-94G>A | XP_011534095.1:n.-94G>A | |
| XM_011535793.2:c.-94G>A | XP_011534095.1:n.-94G>A | |
| NM_000416.3:c.48G>A MANE Select | NP_000407.1:p.Arg16= |