Linked Data
dbSNP Id:
rs776384352
ExAC:
4:74279172 T / C
gnomAD v2:
4-74279172-T-C
gnomAD v4:
4-73413455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413455T>C , CM000666.2:g.73413455T>C | GRCh38 |
| NC_000004.11:g.74279172T>C , CM000666.1:g.74279172T>C | GRCh37 |
| NC_000004.10:g.74498036T>C | NCBI36 |
| NG_009291.1:g.14201T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.879T>C MANE Select | ENSP00000295897.4:p.Asp293= | |
| ENST00000295897.8:c.879T>C | ENSP00000295897.4:p.Asp293= | |
| ENST00000401494.7:c.534T>C | ENSP00000384695.3:p.Asp178= | |
| ENST00000415165.6:c.303T>C | ENSP00000401820.2:p.Asp101= | |
| ENST00000476441.6:c.*158T>C | ENSP00000423727.1:n.*158T>C | |
| ENST00000484992.1:n.199T>C | ||
| ENST00000503124.5:c.429T>C | ENSP00000421027.1:p.Asp143= | |
| ENST00000505649.5:n.565T>C | ||
| ENST00000509063.5:c.879T>C | ENSP00000422784.1:p.Asp293= | |
| ENST00000511370.1:c.412T>C | ||
| ENST00000621085.4:c.491-1651T>C | ENSP00000483421.1:n.491-1651T>C | |
| ENST00000621628.4:c.487-1647T>C | ENSP00000480485.1:n.487-1647T>C | |
| NM_000477.5:c.879T>C | NP_000468.1:p.Asp293= | |
| NM_000477.6:c.879T>C | NP_000468.1:p.Asp293= | |
| NM_000477.7:c.879T>C MANE Select | NP_000468.1:p.Asp293= |