Linked Data
MyVariant Identifiers:
chr5:g.127636546A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300854A>G , CM000667.2:g.128300854A>G | GRCh38 |
| NC_000005.9:g.127636546A>G , CM000667.1:g.127636546A>G | GRCh37 |
| NC_000005.8:g.127664445A>G | NCBI36 |
| NG_008750.1:g.242190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2913T>C | ||
| ENST00000703785.1:n.2832T>C | ||
| ENST00000262464.9:c.6129T>C MANE Select | ENSP00000262464.4:p.Cys2043= | |
| ENST00000262464.8:c.6129T>C | ENSP00000262464.4:p.Cys2043= | |
| ENST00000508053.5:c.6129T>C | ENSP00000424571.1:p.Cys2043= | |
| ENST00000619499.4:c.6126T>C | ENSP00000482132.1:p.Cys2042= | |
| NM_001999.3:c.6129T>C | NP_001990.2:p.Cys2043= | |
| XM_017009228.2:c.5976T>C | XP_016864717.1:p.Cys1992= | |
| NM_001999.4:c.6129T>C MANE Select | NP_001990.2:p.Cys2043= |