Revel Score:
ENST00000397641 (MANE Select)
0.346
ENST00000215862
0.346
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017985 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00018551 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30949811C>G , CM000684.2:g.30949811C>G | GRCh38 |
| NC_000022.10:g.31345797C>G , CM000684.1:g.31345797C>G | GRCh37 |
| NC_000022.9:g.29675797C>G | NCBI36 |
| NG_046752.1:g.23687G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.258G>C MANE Select | ENSP00000380763.2:p.Lys86Asn | |
| ENST00000215862.8:c.72G>C | ENSP00000215862.4:p.Lys24Asn | |
| ENST00000397641.7:c.258G>C | ENSP00000380763.2:p.Lys86Asn | |
| ENST00000476152.2:n.380G>C | ||
| NM_001303256.1:c.258G>C | NP_001290185.1:p.Lys86Asn | |
| NM_001303257.1:c.258G>C | NP_001290186.1:p.Lys86Asn | |
| NM_014941.2:c.72G>C | NP_055756.1:p.Lys24Asn | |
| XM_011530003.1:c.282G>C | XP_011528305.1:p.Lys94Asn | |
| XM_011530004.1:c.273G>C | XP_011528306.1:p.Lys91Asn | |
| XM_011530005.1:c.282G>C | XP_011528307.1:p.Lys94Asn | |
| XM_011530006.1:c.123G>C | XP_011528308.1:p.Lys41Asn | |
| NM_001303256.2:c.258G>C | NP_001290185.1:p.Lys86Asn | |
| NM_001303257.2:c.258G>C | NP_001290186.1:p.Lys86Asn | |
| NM_014941.3:c.72G>C | NP_055756.1:p.Lys24Asn | |
| XM_011530004.2:c.273G>C | XP_011528306.1:p.Lys91Asn | |
| XM_017028667.2:c.273G>C | XP_016884156.1:p.Lys91Asn | |
| NM_001303256.3:c.258G>C MANE Select | NP_001290185.1:p.Lys86Asn |