Revel Score:
ENST00000320574 (MANE Select)
0.735
ENST00000455752
0.735
ENST00000535270
0.735
ENST00000539006
0.735
ENST00000376577
0.735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132675752G>C , CM000674.2:g.132675752G>C | GRCh38 |
| NC_000012.11:g.133252338G>C , CM000674.1:g.133252338G>C | GRCh37 |
| NC_000012.10:g.131762411G>C | NCBI36 |
| NG_033840.1:g.16773C>G , LRG_789:g.16773C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.1116C>G | ||
| ENST00000699982.1:c.943C>G | ||
| ENST00000699983.1:c.943C>G | ||
| ENST00000699984.1:c.943C>G | ||
| ENST00000320574.10:c.1089C>G MANE Select | ENSP00000322570.5:p.Asn363Lys | |
| ENST00000672742.1:c.*591C>G | ENSP00000500279.1:n.*591C>G | |
| ENST00000320574.9:c.1089C>G | ENSP00000322570.5:p.Asn363Lys | |
| ENST00000535270.5:c.1008C>G | ENSP00000445753.1:p.Asn336Lys | |
| ENST00000535934.2:n.747C>G | ||
| ENST00000537064.5:c.*136C>G | ENSP00000442578.1:n.*136C>G | |
| NM_006231.3:c.1089C>G , LRG_789t1:c.1089C>G | NP_006222.2:p.Asn363Lys | |
| XM_011534795.1:c.1089C>G | XP_011533097.1:p.Asn363Lys | |
| XM_011534796.1:c.960C>G | XP_011533098.1:p.Asn320Lys | |
| XM_011534797.1:c.168C>G | XP_011533099.1:p.Asn56Lys | |
| XM_011534799.1:c.1089C>G | XP_011533101.1:p.Asn363Lys | |
| XM_011534800.1:c.1089C>G | XP_011533102.1:p.Asn363Lys | |
| XM_011534801.1:c.1089C>G | XP_011533103.1:p.Asn363Lys | |
| XR_941395.1:n.1298C>G | ||
| XM_011534795.3:c.1089C>G | XP_011533097.1:p.Asn363Lys | |
| XM_011534797.3:c.168C>G | XP_011533099.1:p.Asn56Lys | |
| XM_011534799.2:c.1089C>G | XP_011533101.1:p.Asn363Lys | |
| XR_002957338.1:n.1293C>G | ||
| XR_002957339.1:n.1293C>G | ||
| XR_941395.2:n.1293C>G | ||
| NM_006231.4:c.1089C>G MANE Select | NP_006222.2:p.Asn363Lys |