Revel Score:
ENST00000389048 (MANE Select)
0.831
ENST00000453137
0.831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222407G>C , CM000664.2:g.29222407G>C | GRCh38 |
| NC_000002.11:g.29445273G>C , CM000664.1:g.29445273G>C | GRCh37 |
| NC_000002.10:g.29298777G>C | NCBI36 |
| NG_009445.1:g.704160C>G , LRG_488:g.704160C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3452C>G MANE Select | ENSP00000373700.3:p.Thr1151Arg | |
| ENST00000431873.6:c.679C>G | ||
| ENST00000638605.1:n.329C>G | ||
| ENST00000642122.1:c.248C>G | ENSP00000493203.1:p.Thr83Arg | |
| ENST00000389048.7:c.3452C>G | ENSP00000373700.3:p.Thr1151Arg | |
| ENST00000431873.5:c.332C>G | ENSP00000414027.2:p.Thr111Arg | |
| ENST00000453137.1:c.146C>G | ENSP00000387488.1:p.Thr49Arg | |
| ENST00000618119.4:c.2321C>G | ENSP00000482733.1:p.Thr774Arg | |
| NM_004304.4:c.3452C>G | NP_004295.2:p.Thr1151Arg | |
| NM_001353765.1:c.248C>G | NP_001340694.1:p.Thr83Arg | |
| XM_024452778.1:c.605C>G | XP_024308546.1:p.Thr202Arg | |
| XM_024452779.1:c.248C>G | XP_024308547.1:p.Thr83Arg | |
| NM_004304.5:c.3452C>G MANE Select | NP_004295.2:p.Thr1151Arg | |
| NM_001353765.2:c.248C>G | NP_001340694.1:p.Thr83Arg |