Linked Data
dbSNP Id:
rs2149329628
COSMIC:
COSM5401510
MyVariant Identifiers:
chr4:g.74283969C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418252C>T , CM000666.2:g.73418252C>T | GRCh38 |
| NC_000004.11:g.74283969C>T , CM000666.1:g.74283969C>T | GRCh37 |
| NC_000004.10:g.74502833C>T | NCBI36 |
| NG_009291.1:g.18998C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1593C>T MANE Select | ENSP00000295897.4:p.Phe531= | |
| ENST00000295897.8:c.1593C>T | ENSP00000295897.4:p.Phe531= | |
| ENST00000401494.7:c.1248C>T | ENSP00000384695.3:p.Phe416= | |
| ENST00000415165.6:c.1017C>T | ENSP00000401820.2:p.Phe339= | |
| ENST00000476441.6:c.*872C>T | ENSP00000423727.1:n.*872C>T | |
| ENST00000486939.1:n.247C>T | ||
| ENST00000503124.5:c.1143C>T | ENSP00000421027.1:p.Phe381= | |
| ENST00000505649.5:n.1140C>T | ||
| ENST00000509063.5:c.1593C>T | ENSP00000422784.1:p.Phe531= | |
| ENST00000511370.1:c.1126C>T | ||
| ENST00000621085.4:c.954C>T | ENSP00000483421.1:p.Phe318= | |
| ENST00000621628.4:c.954C>T | ENSP00000480485.1:p.Phe318= | |
| NM_000477.5:c.1593C>T | NP_000468.1:p.Phe531= | |
| NM_000477.6:c.1593C>T | NP_000468.1:p.Phe531= | |
| NM_000477.7:c.1593C>T MANE Select | NP_000468.1:p.Phe531= |