Linked Data
dbSNP Id:
rs774853312
ExAC:
4:6302449 G / C
gnomAD v2:
4-6302449-G-C
gnomAD v4:
4-6300722-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300722G>C , CM000666.2:g.6300722G>C | GRCh38 |
| NC_000004.11:g.6302449G>C , CM000666.1:g.6302449G>C | GRCh37 |
| NC_000004.10:g.6353350G>C | NCBI36 |
| NG_011700.1:g.35873G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.963G>C | ENSP00000507852.1:p.Arg321Ser | |
| ENST00000683395.1:c.904G>C | ||
| ENST00000684087.1:c.927G>C | ENSP00000506978.1:p.Arg309Ser | |
| ENST00000506362.2:c.678G>C | ENSP00000424103.2:p.Arg226Ser | |
| ENST00000673642.1:c.661-75G>C | ENSP00000501242.1:n.661-75G>C | |
| ENST00000673991.1:c.963G>C | ENSP00000501033.1:p.Arg321Ser | |
| ENST00000226760.5:c.927G>C MANE Select | ENSP00000226760.1:p.Arg309Ser | |
| ENST00000503569.5:c.927G>C | ENSP00000423337.1:p.Arg309Ser | |
| ENST00000506362.1:c.560G>C | ||
| ENST00000507765.1:n.1112G>C | ||
| ENST00000513395.1:n.485G>C | ||
| NM_001145853.1:c.927G>C | NP_001139325.1:p.Arg309Ser | |
| NM_006005.3:c.927G>C MANE Select | NP_005996.2:p.Arg309Ser | |
| XM_017008586.1:c.936G>C | XP_016864075.1:p.Arg312Ser |