Revel Score:
ENST00000288710 (MANE Select)
0.045
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26444262A>C , CM000664.2:g.26444262A>C | GRCh38 |
| NC_000002.11:g.26667130A>C , CM000664.1:g.26667130A>C | GRCh37 |
| NC_000002.10:g.26520634A>C | NCBI36 |
| NG_042824.1:g.47351A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1069A>C MANE Select | ENSP00000288710.2:p.Lys357Gln | |
| ENST00000649059.1:c.915A>C | ||
| ENST00000288710.6:c.1069A>C | ENSP00000288710.2:p.Lys357Gln | |
| ENST00000421869.5:c.*382A>C | ENSP00000414375.1:n.*382A>C | |
| ENST00000483675.1:n.670A>C | ||
| NM_145038.3:c.1069A>C | NP_659475.2:p.Lys357Gln | |
| NM_145038.4:c.1069A>C | NP_659475.2:p.Lys357Gln | |
| XM_005264637.3:c.451A>C | XP_005264694.1:p.Lys151Gln | |
| XM_005264638.3:c.49A>C | XP_005264695.1:p.Lys17Gln | |
| XM_017005271.1:c.49A>C | XP_016860760.1:p.Lys17Gln | |
| XM_024453218.1:c.49A>C | XP_024308986.1:p.Lys17Gln | |
| NM_145038.5:c.1069A>C MANE Select | NP_659475.2:p.Lys357Gln |