Revel Score:
ENST00000329347
0.175
ENST00000291582 (MANE Select)
0.279
ENST00000337909
0.279
ENST00000397994
0.279
ENST00000355347
0.279
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293832C>G , CM000683.2:g.44293832C>G | GRCh38 |
| NC_000021.8:g.45713715C>G , CM000683.1:g.45713715C>G | GRCh37 |
| NC_000021.7:g.44538143C>G | NCBI36 |
| NG_009556.1:g.12953C>G , LRG_18:g.12953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1322C>G MANE Select | ENSP00000291582.5:p.Thr441Arg | |
| ENST00000291582.5:c.1322C>G | ENSP00000291582.5:p.Thr441Arg | |
| ENST00000337909.5:n.783C>G | ||
| ENST00000397994.8:n.701C>G | ||
| ENST00000527919.5:n.2052C>G | ||
| ENST00000530812.5:n.3069C>G | ||
| NM_000383.3:c.1322C>G | NP_000374.1:p.Thr441Arg | |
| XM_011529551.1:c.1319C>G | XP_011527853.1:p.Thr440Arg | |
| NM_000383.4:c.1322C>G MANE Select | NP_000374.1:p.Thr441Arg |