Linked Data
MyVariant Identifiers:
chr5:g.158747468T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320460T>C , CM000667.2:g.159320460T>C | GRCh38 |
| NC_000005.9:g.158747468T>C , CM000667.1:g.158747468T>C | GRCh37 |
| NC_000005.8:g.158680046T>C | NCBI36 |
| NG_009618.1:g.15014A>G , LRG_71:g.15014A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-88A>G | ENSP00000512849.1:n.-88A>G | |
| ENST00000696751.1:c.*38A>G | ENSP00000512850.1:n.*38A>G | |
| ENST00000231228.3:c.543A>G MANE Select | ENSP00000231228.2:p.Arg181= | |
| ENST00000231228.2:c.543A>G | ENSP00000231228.2:p.Arg181= | |
| NM_002187.2:c.543A>G , LRG_71t1:c.543A>G | NP_002178.2:p.Arg181= | |
| XR_001742945.1:n.11T>C | ||
| NM_002187.3:c.543A>G MANE Select | NP_002178.2:p.Arg181= |