Revel Score:
ENST00000544246
0.121
ENST00000377865 (MANE Select)
0.121
ENST00000456367
0.121
ENST00000328454
0.121
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.66304864T>C , CM000675.2:g.66304864T>C | GRCh38 |
| NC_000013.10:g.66878996T>C , CM000675.1:g.66878996T>C | GRCh37 |
| NC_000013.9:g.65776997T>C | NCBI36 |
| NG_011876.1:g.930473A>G | |
| NG_011876.2:g.930473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377865.7:c.3505A>G MANE Select | ENSP00000367096.2:p.Lys1169Glu | |
| ENST00000377865.6:c.3505A>G | ENSP00000367096.2:p.Lys1169Glu | |
| ENST00000456367.5:c.3379A>G | ENSP00000401699.2:p.Lys1127Glu | |
| ENST00000544246.5:c.3403A>G | ENSP00000442186.2:p.Lys1135Glu | |
| ENST00000617020.1:n.299A>G | ||
| NM_020403.4:c.3403A>G | NP_065136.1:p.Lys1135Glu | |
| NM_203487.2:c.3505A>G | NP_982354.1:p.Lys1169Glu | |
| XM_005266406.1:c.3379A>G | XP_005266463.1:p.Lys1127Glu | |
| XM_005266407.1:c.3277A>G | XP_005266464.1:p.Lys1093Glu | |
| NM_001318372.1:c.3379A>G | NP_001305301.1:p.Lys1127Glu | |
| NM_001318373.1:c.3277A>G | NP_001305302.1:p.Lys1093Glu | |
| XM_017020619.2:c.3505A>G | XP_016876108.1:p.Lys1169Glu | |
| NM_203487.3:c.3505A>G MANE Select | NP_982354.1:p.Lys1169Glu | |
| NM_001318372.2:c.3379A>G | NP_001305301.1:p.Lys1127Glu | |
| NM_001318373.2:c.3277A>G | NP_001305302.1:p.Lys1093Glu | |
| NM_020403.5:c.3403A>G | NP_065136.1:p.Lys1135Glu |