Linked Data
ClinVar Variation Id:
1630075
dbSNP Id:
rs2112816129
MyVariant Identifiers:
chr5:g.79970938T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675119T>C , CM000667.2:g.80675119T>C | GRCh38 |
| NC_000005.9:g.79970938T>C , CM000667.1:g.79970938T>C | GRCh37 |
| NC_000005.8:g.80006694T>C | NCBI36 |
| NG_016607.1:g.25645T>C | |
| NG_016607.2:g.25645T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1164T>C MANE Select | ENSP00000265081.6:p.Ile388= | |
| ENST00000658259.1:c.996T>C | ENSP00000499617.1:p.Ile332= | |
| ENST00000667069.1:c.1164T>C | ENSP00000499502.1:p.Ile388= | |
| ENST00000670357.1:c.1164T>C | ENSP00000499791.1:p.Ile388= | |
| ENST00000265081.6:c.1164T>C | ENSP00000265081.6:p.Ile388= | |
| NM_002439.4:c.1164T>C | NP_002430.3:p.Ile388= | |
| NM_002439.5:c.1164T>C MANE Select | NP_002430.3:p.Ile388= |