Linked Data
MyVariant Identifiers:
chr17:g.41063395C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911378C>A , CM000679.2:g.42911378C>A | GRCh38 |
| NC_000017.10:g.41063395C>A , CM000679.1:g.41063395C>A | GRCh37 |
| NC_000017.9:g.38316921C>A | NCBI36 |
| NG_011808.1:g.15581C>A , LRG_147:g.15581C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1026C>A MANE Select | ENSP00000253801.1:p.Pro342= | |
| ENST00000253801.6:c.1026C>A | ENSP00000253801.1:p.Pro342= | |
| ENST00000585489.1:c.*418C>A | ENSP00000466202.1:n.*418C>A | |
| NM_000151.3:c.1026C>A | NP_000142.2:p.Pro342= | |
| NM_001270397.1:c.*418C>A | NP_001257326.1:n.*418C>A | |
| NM_000151.4:c.1026C>A MANE Select | NP_000142.2:p.Pro342= | |
| NM_001270397.2:c.*418C>A | NP_001257326.1:n.*418C>A |