Linked Data
dbSNP Id:
rs143665140
gnomAD v3:
4-73413458-G-A
gnomAD v4:
4-73413458-G-A
COSMIC:
COSM4125883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413458G>A , CM000666.2:g.73413458G>A | GRCh38 |
| NC_000004.11:g.74279175G>A , CM000666.1:g.74279175G>A | GRCh37 |
| NC_000004.10:g.74498039G>A | NCBI36 |
| NG_009291.1:g.14204G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.882G>A MANE Select | ENSP00000295897.4:p.Ser294= | |
| ENST00000295897.8:c.882G>A | ENSP00000295897.4:p.Ser294= | |
| ENST00000401494.7:c.537G>A | ENSP00000384695.3:p.Ser179= | |
| ENST00000415165.6:c.306G>A | ENSP00000401820.2:p.Ser102= | |
| ENST00000476441.6:c.*161G>A | ENSP00000423727.1:n.*161G>A | |
| ENST00000484992.1:n.202G>A | ||
| ENST00000503124.5:c.432G>A | ENSP00000421027.1:p.Ser144= | |
| ENST00000505649.5:n.568G>A | ||
| ENST00000509063.5:c.882G>A | ENSP00000422784.1:p.Ser294= | |
| ENST00000511370.1:c.415G>A | ||
| ENST00000621085.4:c.491-1648G>A | ENSP00000483421.1:n.491-1648G>A | |
| ENST00000621628.4:c.487-1644G>A | ENSP00000480485.1:n.487-1644G>A | |
| NM_000477.5:c.882G>A | NP_000468.1:p.Ser294= | |
| NM_000477.6:c.882G>A | NP_000468.1:p.Ser294= | |
| NM_000477.7:c.882G>A MANE Select | NP_000468.1:p.Ser294= |