Linked Data
dbSNP Id:
rs2133336178
COSMIC:
COSM308624
MyVariant Identifiers:
chr9:g.139399244A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504792A>G , CM000671.2:g.136504792A>G | GRCh38 |
| NC_000009.11:g.139399244A>G , CM000671.1:g.139399244A>G | GRCh37 |
| NC_000009.10:g.138519065A>G | NCBI36 |
| NG_007458.1:g.45995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2706T>C | ||
| ENST00000651671.1:c.4899T>C MANE Select | ENSP00000498587.1:p.Arg1633= | |
| ENST00000679595.1:c.4899T>C | ENSP00000506241.1:p.Arg1633= | |
| ENST00000680133.1:c.4785T>C | ENSP00000505319.1:p.Arg1595= | |
| ENST00000680218.1:c.4779T>C | ENSP00000505339.1:p.Arg1593= | |
| ENST00000680668.1:c.4785T>C | ENSP00000506336.1:p.Arg1595= | |
| ENST00000680778.1:c.2496T>C | ENSP00000506033.1:p.Arg832= | |
| ENST00000680924.1:c.*2299T>C | ENSP00000506031.1:n.*2299T>C | |
| ENST00000681135.1:c.*2508T>C | ENSP00000506636.1:n.*2508T>C | |
| ENST00000681298.1:n.1712T>C | ||
| ENST00000681454.1:c.*4135T>C | ENSP00000505763.1:n.*4135T>C | |
| ENST00000277541.6:c.4899T>C | ENSP00000277541.6:p.Arg1633= | |
| ENST00000494783.1:n.54T>C | ||
| NM_017617.3:c.4899T>C | NP_060087.3:p.Arg1633= | |
| XM_011518717.1:c.4200T>C | XP_011517019.1:p.Arg1400= | |
| NM_017617.5:c.4899T>C MANE Select | NP_060087.3:p.Arg1633= | |
| XM_011518717.2:c.4176T>C | XP_011517019.2:p.Arg1392= |