Linked Data
dbSNP Id:
rs751325346
ExAC:
11:116703525 C / A
gnomAD v2:
11-116703525-C-A
gnomAD v4:
11-116832809-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832809C>A , CM000673.2:g.116832809C>A | GRCh38 |
| NC_000011.9:g.116703525C>A , CM000673.1:g.116703525C>A | GRCh37 |
| NC_000011.8:g.116208735C>A | NCBI36 |
| NG_008949.1:g.7902C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.225C>A MANE Select | ENSP00000227667.2:p.Ser75Arg | |
| ENST00000227667.7:c.225C>A | ENSP00000227667.2:p.Ser75Arg | |
| ENST00000375345.3:c.279C>A | ENSP00000364494.1:p.Ser93Arg | |
| ENST00000630701.1:c.279C>A | ENSP00000486182.1:p.Ser93Arg | |
| NM_000040.1:c.225C>A | NP_000031.1:p.Ser75Arg | |
| NM_000040.2:c.225C>A | NP_000031.1:p.Ser75Arg | |
| NM_000040.3:c.225C>A MANE Select | NP_000031.1:p.Ser75Arg |