ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000291582 (MANE Select)
0.227
ENST00000337909
0.227
ENST00000397994
0.227
ENST00000355347
0.227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296404C>T , CM000683.2:g.44296404C>T | GRCh38 |
| NC_000021.8:g.45716287C>T , CM000683.1:g.45716287C>T | GRCh37 |
| NC_000021.7:g.44540715C>T | NCBI36 |
| NG_009556.1:g.15525C>T , LRG_18:g.15525C>T | |
| NG_034033.1:g.1371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1525C>T MANE Select | ENSP00000291582.5:p.Pro509Ser | |
| ENST00000291582.5:c.1525C>T | ENSP00000291582.5:p.Pro509Ser | |
| ENST00000337909.5:n.986C>T | ||
| ENST00000397994.8:n.904C>T | ||
| ENST00000527919.5:n.2284C>T | ||
| ENST00000530812.5:n.3272C>T | ||
| NM_000383.3:c.1525C>T | NP_000374.1:p.Pro509Ser | |
| XM_011529551.1:c.1522C>T | XP_011527853.1:p.Pro508Ser | |
| NM_000383.4:c.1525C>T MANE Select | NP_000374.1:p.Pro509Ser |