Revel Score:
ENST00000337415
0.500
ENST00000345913
0.500
ENST00000349624
0.500
ENST00000329066 (MANE Select)
0.500
ENST00000382201
0.500
ENST00000382198
0.500
ENST00000425083
0.500
ENST00000446278
0.395
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1503955C>A , CM000664.2:g.1503955C>A | GRCh38 |
| NC_000002.11:g.1507727C>A , CM000664.1:g.1507727C>A | GRCh37 |
| NC_000002.10:g.1486734C>A | NCBI36 |
| NG_011581.1:g.95493C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.2394C>A MANE Select | ENSP00000329869.4:p.Asn798Lys | |
| ENST00000329066.8:c.2394C>A | ENSP00000329869.4:p.Asn798Lys | |
| ENST00000345913.8:c.2394C>A | ENSP00000318820.7:p.Asn798Lys | |
| ENST00000346956.7:c.2386+7190C>A | ENSP00000263886.6:n.2386+7190C>A | |
| ENST00000382198.5:c.1875C>A | ENSP00000371633.1:p.Asn625Lys | |
| ENST00000382201.7:c.2223C>A | ENSP00000371636.3:p.Asn741Lys | |
| ENST00000422464.5:c.2173+7190C>A | ENSP00000405788.1:n.2173+7190C>A | |
| ENST00000425083.3:n.57C>A | ||
| ENST00000446278.5:c.818C>A | ||
| ENST00000462973.5:n.424+9916C>A | ||
| ENST00000469607.3:c.808+7190C>A | ENSP00000419461.1:n.808+7190C>A | |
| ENST00000497517.6:n.685C>A | ||
| NM_000547.5:c.2394C>A | NP_000538.3:p.Asn798Lys | |
| NM_001206744.1:c.2394C>A | NP_001193673.1:p.Asn798Lys | |
| NM_001206745.1:c.2223C>A | NP_001193674.1:p.Asn741Lys | |
| NM_175719.3:c.2223C>A | NP_783650.1:p.Asn741Lys | |
| NM_175721.3:c.2386+7190C>A | NP_783652.1:n.2386+7190C>A | |
| NM_175722.3:c.1875C>A | NP_783653.1:p.Asn625Lys | |
| XM_011510379.1:c.2386+7190C>A | XP_011508681.1:n.2386+7190C>A | |
| XM_011510380.1:c.2394C>A | XP_011508682.1:p.Asn798Lys | |
| XM_011510381.1:c.2215+7190C>A | XP_011508683.1:n.2215+7190C>A | |
| XR_922681.1:n.2395C>A | ||
| XM_011510380.3:c.2430C>A | XP_011508682.2:p.Asn810Lys | |
| XM_024453085.1:c.2422+7190C>A | XP_024308853.1:n.2422+7190C>A | |
| XM_024453086.1:c.2430C>A | XP_024308854.1:p.Asn810Lys | |
| XM_024453087.1:c.2386+7190C>A | XP_024308855.1:n.2386+7190C>A | |
| XM_024453088.1:c.2386+7190C>A | XP_024308856.1:n.2386+7190C>A | |
| XM_024453089.1:c.2386+7190C>A | XP_024308857.1:n.2386+7190C>A | |
| XM_024453090.1:c.2422+7190C>A | XP_024308858.1:n.2422+7190C>A | |
| XM_024453091.1:c.2259C>A | XP_024308859.1:p.Asn753Lys | |
| XM_024453092.1:c.2251+7190C>A | XP_024308860.1:n.2251+7190C>A | |
| XM_024453093.1:c.1911C>A | XP_024308861.1:p.Asn637Lys | |
| NM_001206744.2:c.2394C>A MANE Select | NP_001193673.1:p.Asn798Lys | |
| NM_000547.6:c.2394C>A | NP_000538.3:p.Asn798Lys | |
| NM_001206745.2:c.2223C>A | NP_001193674.1:p.Asn741Lys | |
| NM_175719.4:c.2223C>A | NP_783650.1:p.Asn741Lys |