Revel Score:
ENST00000360581 (MANE Select)
0.155
ENST00000381542
0.155
ENST00000334481
0.155
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34849570A>T , CM000669.2:g.34849570A>T | GRCh38 |
| NC_000007.13:g.34889182A>T , CM000669.1:g.34889182A>T | GRCh37 |
| NC_000007.12:g.34855707A>T | NCBI36 |
| NG_012185.1:g.196286A>T | |
| NG_012185.2:g.196286A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360581.6:c.1031A>T MANE Select | ENSP00000353788.1:p.Gln344Leu | |
| ENST00000359791.5:c.1025+907A>T | ENSP00000352839.1:n.1025+907A>T | |
| ENST00000360581.5:c.1031A>T | ENSP00000353788.1:p.Gln344Leu | |
| ENST00000381539.3:c.1131A>T | ENSP00000370950.3:p.Ala377= | |
| ENST00000381542.5:c.833A>T | ENSP00000370953.1:p.Gln278Leu | |
| ENST00000381544.6:c.*450A>T | ENSP00000370955.2:n.*450A>T | |
| ENST00000396095.6:c.*526A>T | ENSP00000379402.2:n.*526A>T | |
| ENST00000531252.5:c.992+907A>T | ENSP00000433258.1:n.992+907A>T | |
| NM_001300933.1:c.992+907A>T | NP_001287862.1:n.992+907A>T | |
| NM_001300934.1:c.833A>T | NP_001287863.1:p.Gln278Leu | |
| NM_001300935.1:c.1131A>T | NP_001287864.1:p.Ala377= | |
| NM_207172.1:c.1031A>T | NP_997055.1:p.Gln344Leu | |
| NM_207173.1:c.1025+907A>T | NP_997056.1:n.1025+907A>T | |
| NM_001300933.2:c.992+907A>T | NP_001287862.1:n.992+907A>T | |
| NM_207172.2:c.1031A>T MANE Select | NP_997055.1:p.Gln344Leu | |
| NM_207173.2:c.1025+907A>T | NP_997056.1:n.1025+907A>T | |
| NM_001300934.2:c.833A>T | NP_001287863.1:p.Gln278Leu | |
| NM_001300935.2:c.1131A>T | NP_001287864.1:p.Ala377= |