ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000366574 (MANE Select)
0.881
ENST00000360064
0.881
ENST00000542537
0.881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237640938A>T , CM000663.2:g.237640938A>T | GRCh38 |
| NC_000001.10:g.237804238A>T , CM000663.1:g.237804238A>T | GRCh37 |
| NC_000001.9:g.235870861A>T | NCBI36 |
| NG_008799.2:g.603537A>T | |
| NG_008799.3:g.603755A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.7157A>T | ENSP00000499659.2:p.Asn2386Ile | |
| ENST00000659194.3:c.7157A>T | ENSP00000499653.3:p.Asn2386Ile | |
| ENST00000660292.2:c.7157A>T | ENSP00000499787.2:p.Asn2386Ile | |
| ENST00000366574.7:c.7157A>T MANE Select | ENSP00000355533.2:p.Asn2386Ile | |
| ENST00000360064.7:c.7109A>T | ENSP00000353174.7:p.Asn2370Ile | |
| ENST00000366574.6:c.7157A>T | ENSP00000355533.2:p.Asn2386Ile | |
| NM_001035.2:c.7157A>T | NP_001026.2:p.Asn2386Ile | |
| XM_006711802.2:c.7187A>T | XP_006711865.1:p.Asn2396Ile | |
| XM_006711803.2:c.7184A>T | XP_006711866.1:p.Asn2395Ile | |
| XM_006711804.2:c.7187A>T | XP_006711867.1:p.Asn2396Ile | |
| XM_006711805.2:c.7157A>T | XP_006711868.1:p.Asn2386Ile | |
| XM_006711806.2:c.7187A>T | XP_006711869.1:p.Asn2396Ile | |
| XM_006711807.2:c.7187A>T | XP_006711870.1:p.Asn2396Ile | |
| XM_006711808.2:c.7187A>T | XP_006711871.1:p.Asn2396Ile | |
| XM_006711809.2:c.7187A>T | XP_006711872.1:p.Asn2396Ile | |
| XM_006711810.2:c.7154A>T | XP_006711873.1:p.Asn2385Ile | |
| XR_949152.1:n.7468A>T | ||
| XM_006711802.3:c.7187A>T | XP_006711865.1:p.Asn2396Ile | |
| XM_006711803.3:c.7184A>T | XP_006711866.1:p.Asn2395Ile | |
| XM_006711804.3:c.7187A>T | XP_006711867.1:p.Asn2396Ile | |
| XM_006711805.3:c.7157A>T | XP_006711868.1:p.Asn2386Ile | |
| XM_006711806.3:c.7187A>T | XP_006711869.1:p.Asn2396Ile | |
| XM_006711807.3:c.7187A>T | XP_006711870.1:p.Asn2396Ile | |
| XM_006711808.3:c.7187A>T | XP_006711871.1:p.Asn2396Ile | |
| XM_006711810.3:c.7154A>T | XP_006711873.1:p.Asn2385Ile | |
| XM_017002028.1:c.7166A>T | XP_016857517.1:p.Asn2389Ile | |
| XR_002957299.1:n.7501A>T | ||
| XR_949152.2:n.7501A>T | ||
| NM_001035.3:c.7157A>T MANE Select | NP_001026.2:p.Asn2386Ile |