Linked Data
dbSNP Id:
rs371923032
ExAC:
5:135392404 G / T
gnomAD v2:
5-135392404-G-T
gnomAD v4:
5-136056715-G-T
COSMIC:
COSM303372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056715G>T , CM000667.2:g.136056715G>T | GRCh38 |
| NC_000005.9:g.135392404G>T , CM000667.1:g.135392404G>T | GRCh37 |
| NC_000005.8:g.135420303G>T | NCBI36 |
| NG_012646.1:g.32821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1598G>T MANE Select | ENSP00000416330.2:p.Arg533Leu | |
| ENST00000442011.6:c.1598G>T | ENSP00000416330.2:p.Arg533Leu | |
| ENST00000506699.5:n.2115G>T | ||
| ENST00000507018.5:c.1576G>T | ||
| ENST00000509485.5:c.595G>T | ||
| ENST00000514242.5:n.369G>T | ||
| ENST00000514554.5:c.750G>T | ||
| NM_000358.2:c.1598G>T | NP_000349.1:p.Arg533Leu | |
| NM_000358.3:c.1598G>T MANE Select | NP_000349.1:p.Arg533Leu |