Linked Data
dbSNP Id:
rs774294755
gnomAD v2:
4-74279174-C-T
gnomAD v3:
4-73413457-C-T
gnomAD v4:
4-73413457-C-T
COSMIC:
COSM256286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413457C>T , CM000666.2:g.73413457C>T | GRCh38 |
| NC_000004.11:g.74279174C>T , CM000666.1:g.74279174C>T | GRCh37 |
| NC_000004.10:g.74498038C>T | NCBI36 |
| NG_009291.1:g.14203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.881C>T MANE Select | ENSP00000295897.4:p.Ser294Leu | |
| ENST00000295897.8:c.881C>T | ENSP00000295897.4:p.Ser294Leu | |
| ENST00000401494.7:c.536C>T | ENSP00000384695.3:p.Ser179Leu | |
| ENST00000415165.6:c.305C>T | ENSP00000401820.2:p.Ser102Leu | |
| ENST00000476441.6:c.*160C>T | ENSP00000423727.1:n.*160C>T | |
| ENST00000484992.1:n.201C>T | ||
| ENST00000503124.5:c.431C>T | ENSP00000421027.1:p.Ser144Leu | |
| ENST00000505649.5:n.567C>T | ||
| ENST00000509063.5:c.881C>T | ENSP00000422784.1:p.Ser294Leu | |
| ENST00000511370.1:c.414C>T | ||
| ENST00000621085.4:c.491-1649C>T | ENSP00000483421.1:n.491-1649C>T | |
| ENST00000621628.4:c.487-1645C>T | ENSP00000480485.1:n.487-1645C>T | |
| NM_000477.5:c.881C>T | NP_000468.1:p.Ser294Leu | |
| NM_000477.6:c.881C>T | NP_000468.1:p.Ser294Leu | |
| NM_000477.7:c.881C>T MANE Select | NP_000468.1:p.Ser294Leu |