Revel Score:
ENST00000330287
0.749
ENST00000360256 (MANE Select)
0.749
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861865A>T , CM000685.2:g.154861865A>T | GRCh38 |
| NC_000023.10:g.154090140A>T , CM000685.1:g.154090140A>T | GRCh37 |
| NC_000023.9:g.153743334A>T | NCBI36 |
| NG_011403.1:g.165859T>A | |
| NG_011403.2:g.165859T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6576T>A MANE Select | ENSP00000353393.4:p.Ser2192Arg | |
| ENST00000644698.1:c.309T>A | ENSP00000495706.1:p.Ser103Arg | |
| ENST00000330287.10:c.171T>A | ENSP00000327895.6:p.Ser57Arg | |
| ENST00000360256.8:c.6576T>A | ENSP00000353393.4:p.Ser2192Arg | |
| NM_000132.3:c.6576T>A | NP_000123.1:p.Ser2192Arg | |
| NM_019863.2:c.171T>A | NP_063916.1:p.Ser57Arg | |
| XM_011531126.1:c.6471T>A | XP_011529428.1:p.Ser2157Arg | |
| NM_000132.4:c.6576T>A MANE Select | NP_000123.1:p.Ser2192Arg | |
| NM_019863.3:c.171T>A | NP_063916.1:p.Ser57Arg |