Revel Score:
ENST00000229771 (MANE Select)
0.171
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35511797G>T , CM000668.2:g.35511797G>T | GRCh38 |
| NC_000006.11:g.35479574G>T , CM000668.1:g.35479574G>T | GRCh37 |
| NC_000006.10:g.35587552G>T | NCBI36 |
| NG_009077.1:g.6074C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.200C>A MANE Select | ENSP00000229771.6:p.Thr67Lys | |
| ENST00000229771.10:c.200C>A | ENSP00000229771.6:p.Thr67Lys | |
| ENST00000322263.8:c.190+383C>A | ENSP00000319414.4:n.190+383C>A | |
| ENST00000373892.4:n.171C>A | ||
| ENST00000428978.1:c.190+383C>A | ENSP00000406765.1:n.190+383C>A | |
| ENST00000448446.2:n.105C>A | ||
| ENST00000614066.4:c.200C>A | ENSP00000477534.1:p.Thr67Lys | |
| NM_001289395.1:c.190+383C>A | NP_001276324.1:n.190+383C>A | |
| NM_003322.4:c.200C>A | NP_003313.3:p.Thr67Lys | |
| NM_003322.5:c.200C>A | NP_003313.3:p.Thr67Lys | |
| NM_003322.6:c.200C>A MANE Select | NP_003313.3:p.Thr67Lys | |
| NM_001289395.2:c.190+383C>A | NP_001276324.1:n.190+383C>A |