dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000322315
0.340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586967C>A , CM000681.2:g.3586967C>A | GRCh38 |
| NC_000019.9:g.3586965C>A , CM000681.1:g.3586965C>A | GRCh37 |
| NC_000019.8:g.3537965C>A | NCBI36 |
| NG_031943.1:g.6397C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644452.3:c.565C>A MANE Select | ENSP00000493901.2:p.Arg189Ser | |
| ENST00000644946.1:c.565C>A | ENSP00000495068.1:p.Arg189Ser | |
| ENST00000322315.5:c.565C>A | ENSP00000319254.5:p.Arg189Ser | |
| NM_133261.2:c.565C>A | NP_573568.1:p.Arg189Ser | |
| XM_005259492.2:c.565C>A | XP_005259549.1:p.Arg189Ser | |
| XM_005259492.3:c.565C>A | XP_005259549.1:p.Arg189Ser | |
| NM_133261.3:c.565C>A MANE Select | NP_573568.1:p.Arg189Ser |