Linked Data
MyVariant Identifiers:
chr6:g.116914201G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116593038G>T , CM000668.2:g.116593038G>T | GRCh38 |
| NC_000006.11:g.116914201G>T , CM000668.1:g.116914201G>T | GRCh37 |
| NC_000006.10:g.117020894G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.669G>T MANE Select | ENSP00000420357.2:p.Leu223= | |
| ENST00000466444.6:c.669G>T | ENSP00000420357.2:p.Leu223= | |
| ENST00000487832.6:c.381G>T | ENSP00000428778.1:p.Leu127= | |
| NM_001007464.2:c.381G>T | NP_001007465.1:p.Leu127= | |
| NM_015952.3:c.669G>T | NP_057036.2:p.Leu223= | |
| NM_016104.3:c.381G>T | NP_057188.2:p.Leu127= | |
| NM_015952.4:c.669G>T MANE Select | NP_057036.2:p.Leu223= | |
| NM_001007464.3:c.381G>T | NP_001007465.1:p.Leu127= | |
| NM_016104.4:c.381G>T | NP_057188.2:p.Leu127= |