Revel Score:
ENST00000295897 (MANE Select)
0.116
ENST00000415165
0.116
ENST00000329326
0.116
ENST00000503124
0.116
ENST00000401494
0.116
ENST00000430202
0.116
ENST00000511370
0.026
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420262A>T , CM000666.2:g.73420262A>T | GRCh38 |
| NC_000004.11:g.74285979A>T , CM000666.1:g.74285979A>T | GRCh37 |
| NC_000004.10:g.74504843A>T | NCBI36 |
| NG_009291.1:g.21008A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1794A>T MANE Select | ENSP00000295897.4:p.Lys598Asn | |
| ENST00000295897.8:c.1794A>T | ENSP00000295897.4:p.Lys598Asn | |
| ENST00000401494.7:c.1449A>T | ENSP00000384695.3:p.Lys483Asn | |
| ENST00000415165.6:c.1218A>T | ENSP00000401820.2:p.Lys406Asn | |
| ENST00000476441.6:c.*1073A>T | ENSP00000423727.1:n.*1073A>T | |
| ENST00000495173.1:n.102A>T | ||
| ENST00000503124.5:c.1344A>T | ENSP00000421027.1:p.Lys448Asn | |
| ENST00000505649.5:n.1341A>T | ||
| ENST00000508932.5:n.184A>T | ||
| ENST00000509063.5:c.1785+623A>T | ENSP00000422784.1:n.1785+623A>T | |
| ENST00000511370.1:c.1327A>T | ||
| ENST00000621085.4:c.1155A>T | ENSP00000483421.1:p.Lys385Asn | |
| ENST00000621628.4:c.1155A>T | ENSP00000480485.1:p.Lys385Asn | |
| NM_000477.5:c.1794A>T | NP_000468.1:p.Lys598Asn | |
| NM_000477.6:c.1794A>T | NP_000468.1:p.Lys598Asn | |
| NM_000477.7:c.1794A>T MANE Select | NP_000468.1:p.Lys598Asn |