Linked Data
dbSNP Id:
rs59439476
ExAC:
4:74272475 A / C
gnomAD v2:
4-74272475-A-C
gnomAD v3:
4-73406758-A-C
gnomAD v4:
4-73406758-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406758A>C , CM000666.2:g.73406758A>C | GRCh38 |
| NC_000004.11:g.74272475A>C , CM000666.1:g.74272475A>C | GRCh37 |
| NC_000004.10:g.74491339A>C | NCBI36 |
| NG_009291.1:g.7504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.267A>C MANE Select | ENSP00000295897.4:p.Ser89= | |
| ENST00000295897.8:c.267A>C | ENSP00000295897.4:p.Ser89= | |
| ENST00000401494.7:c.137+1585A>C | ENSP00000384695.3:n.137+1585A>C | |
| ENST00000415165.6:c.137+1585A>C | ENSP00000401820.2:n.137+1585A>C | |
| ENST00000441319.5:c.273A>C | ENSP00000392541.1:p.Ser91= | |
| ENST00000476441.6:c.79+2352A>C | ENSP00000423727.1:n.79+2352A>C | |
| ENST00000503124.5:c.29A>C | ENSP00000421027.1:p.His10Pro | |
| ENST00000509063.5:c.267A>C | ENSP00000422784.1:p.Ser89= | |
| ENST00000510166.5:n.303A>C | ||
| ENST00000514786.1:n.236A>C | ||
| ENST00000515133.5:n.308A>C | ||
| ENST00000621085.4:c.267A>C | ENSP00000483421.1:p.Ser89= | |
| ENST00000621628.4:c.267A>C | ENSP00000480485.1:p.Ser89= | |
| NM_000477.5:c.267A>C | NP_000468.1:p.Ser89= | |
| NM_000477.6:c.267A>C | NP_000468.1:p.Ser89= | |
| NM_000477.7:c.267A>C MANE Select | NP_000468.1:p.Ser89= |