Revel Score:
ENST00000367288 (MANE Select)
0.306
ENST00000400965
0.306
ENST00000412469
0.306
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201900129G>T , CM000663.2:g.201900129G>T | GRCh38 |
| NC_000001.10:g.201869257G>T , CM000663.1:g.201869257G>T | GRCh37 |
| NC_000001.9:g.200135880G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367288.5:c.884C>A MANE Select | ENSP00000356257.4:p.Thr295Lys | |
| ENST00000367288.4:c.884C>A | ENSP00000356257.4:p.Thr295Lys | |
| ENST00000616739.1:c.591+209C>A | ENSP00000480209.1:n.591+209C>A | |
| NM_012134.2:c.884C>A | NP_036266.2:p.Thr295Lys | |
| NM_012134.3:c.884C>A MANE Select | NP_036266.2:p.Thr295Lys |