Linked Data
dbSNP Id:
rs760686684
ExAC:
4:74280776 G / C
gnomAD v2:
4-74280776-G-C
gnomAD v3:
4-73415059-G-C
gnomAD v4:
4-73415059-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415059G>C , CM000666.2:g.73415059G>C | GRCh38 |
| NC_000004.11:g.74280776G>C , CM000666.1:g.74280776G>C | GRCh37 |
| NC_000004.10:g.74499640G>C | NCBI36 |
| NG_009291.1:g.15805G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1083G>C MANE Select | ENSP00000295897.4:p.Arg361Ser | |
| ENST00000295897.8:c.1083G>C | ENSP00000295897.4:p.Arg361Ser | |
| ENST00000401494.7:c.738G>C | ENSP00000384695.3:p.Arg246Ser | |
| ENST00000415165.6:c.507G>C | ENSP00000401820.2:p.Arg169Ser | |
| ENST00000476441.6:c.*362G>C | ENSP00000423727.1:n.*362G>C | |
| ENST00000484992.1:n.403G>C | ||
| ENST00000503124.5:c.633G>C | ENSP00000421027.1:p.Arg211Ser | |
| ENST00000504043.1:n.86G>C | ||
| ENST00000505649.5:n.769G>C | ||
| ENST00000509063.5:c.1083G>C | ENSP00000422784.1:p.Arg361Ser | |
| ENST00000511370.1:c.616G>C | ||
| ENST00000621085.4:c.491-47G>C | ENSP00000483421.1:n.491-47G>C | |
| ENST00000621628.4:c.487-43G>C | ENSP00000480485.1:n.487-43G>C | |
| NM_000477.5:c.1083G>C | NP_000468.1:p.Arg361Ser | |
| NM_000477.6:c.1083G>C | NP_000468.1:p.Arg361Ser | |
| NM_000477.7:c.1083G>C MANE Select | NP_000468.1:p.Arg361Ser |