Linked Data
MyVariant Identifiers:
chr1:g.116275555A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732934A>T , CM000663.2:g.115732934A>T | GRCh38 |
| NC_000001.10:g.116275555A>T , CM000663.1:g.116275555A>T | GRCh37 |
| NC_000001.9:g.116077078A>T | NCBI36 |
| NG_008802.1:g.40872T>A , LRG_404:g.40872T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.297T>A | ENSP00000518226.1:p.Pro99= | |
| ENST00000261448.6:c.573T>A MANE Select | ENSP00000261448.5:p.Pro191= | |
| ENST00000261448.5:c.573T>A | ENSP00000261448.5:p.Pro191= | |
| NM_001232.3:c.573T>A , LRG_404t1:c.573T>A | NP_001223.2:p.Pro191= | |
| NM_001232.4:c.573T>A MANE Select | NP_001223.2:p.Pro191= |