Linked Data
MyVariant Identifiers:
chr5:g.95729044C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393340C>A , CM000667.2:g.96393340C>A | GRCh38 |
| NC_000005.9:g.95729044C>A , CM000667.1:g.95729044C>A | GRCh37 |
| NC_000005.8:g.95754800C>A | NCBI36 |
| NG_021161.1:g.44942G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1923G>T MANE Select | ENSP00000308024.2:p.Leu641= | |
| ENST00000311106.7:c.1923G>T | ENSP00000308024.2:p.Leu641= | |
| ENST00000508626.5:c.1782G>T | ENSP00000421600.1:p.Leu594= | |
| ENST00000513085.1:n.1066G>T | ||
| NM_000439.4:c.1923G>T | NP_000430.3:p.Leu641= | |
| NM_001177875.1:c.1782G>T | NP_001171346.1:p.Leu594= | |
| NR_130776.1:n.354+13688C>A | ||
| NM_000439.5:c.1923G>T MANE Select | NP_000430.3:p.Leu641= | |
| NM_001177875.2:c.1782G>T | NP_001171346.1:p.Leu594= |