Revel Score:
ENST00000216181 (MANE Select)
0.710
ENST00000401701
0.710
ENST00000456729
0.710
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36348958G>C , CM000684.2:g.36348958G>C | GRCh38 |
| NC_000022.10:g.36745003G>C , CM000684.1:g.36745003G>C | GRCh37 |
| NC_000022.9:g.35074949G>C | NCBI36 |
| NG_011884.2:g.44061C>G , LRG_567:g.44061C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.493C>G | ||
| ENST00000685191.1:n.502C>G | ||
| ENST00000685801.1:c.279C>G | ENSP00000510688.1:p.Asn93Lys | |
| ENST00000688137.1:c.279C>G | ENSP00000510189.1:p.Asn93Lys | |
| ENST00000691296.1:c.279C>G | ENSP00000509816.1:p.Asn93Lys | |
| ENST00000691687.1:n.493C>G | ||
| ENST00000692930.1:n.493C>G | ||
| ENST00000216181.11:c.279C>G MANE Select | ENSP00000216181.6:p.Asn93Lys | |
| ENST00000216181.9:c.279C>G | ENSP00000216181.5:p.Asn93Lys | |
| ENST00000401701.1:c.279C>G | ENSP00000384631.1:p.Asn93Lys | |
| ENST00000456729.1:c.279C>G | ENSP00000414852.1:p.Asn93Lys | |
| NM_002473.5:c.279C>G , LRG_567t1:c.279C>G | NP_002464.1:p.Asn93Lys | |
| XM_011530197.1:c.279C>G | XP_011528499.1:p.Asn93Lys | |
| XM_011530197.2:c.279C>G | XP_011528499.1:p.Asn93Lys | |
| XM_017028803.1:c.279C>G | XP_016884292.1:p.Asn93Lys | |
| XM_017028804.1:c.279C>G | XP_016884293.1:p.Asn93Lys | |
| XM_017028805.1:c.279C>G | XP_016884294.1:p.Asn93Lys | |
| XM_017028806.1:c.279C>G | XP_016884295.1:p.Asn93Lys | |
| NM_002473.6:c.279C>G MANE Select | NP_002464.1:p.Asn93Lys |