Revel Score:
ENST00000260630
0.416
ENST00000407341
0.416
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070953T>G , CM000664.2:g.38070953T>G | GRCh38 |
| NC_000002.11:g.38298096T>G , CM000664.1:g.38298096T>G | GRCh37 |
| NC_000002.10:g.38151600T>G | NCBI36 |
| NG_008386.2:g.10149A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1401A>C | ENSP00000478839.2:p.Lys467Asn | |
| ENST00000610745.5:c.1401A>C MANE Select | ENSP00000478561.1:p.Lys467Asn | |
| ENST00000494864.1:c.288A>C | ENSP00000479876.1:p.Lys96Asn | |
| ENST00000610745.4:c.1401A>C | ENSP00000478561.1:p.Lys467Asn | |
| ENST00000614273.1:c.1401A>C | ENSP00000483678.1:p.Lys467Asn | |
| NM_000104.3:c.1401A>C | NP_000095.2:p.Lys467Asn | |
| NM_000104.4:c.1401A>C MANE Select | NP_000095.2:p.Lys467Asn |