Revel Score:
ENST00000220420 (MANE Select)
0.482
ENST00000349114
0.482
ENST00000396996
0.482
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00139579 (MID)
Exomes Max Group AF
0.00081387 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43238827C>G , CM000677.2:g.43238827C>G | GRCh38 |
| NC_000015.9:g.43531025C>G , CM000677.1:g.43531025C>G | GRCh37 |
| NC_000015.8:g.41318317C>G | NCBI36 |
| NG_016124.1:g.33031G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.1335G>C MANE Select | ENSP00000220420.5:p.Lys445Asn | |
| ENST00000220420.9:c.1335G>C | ENSP00000220420.5:p.Lys445Asn | |
| ENST00000349114.8:c.1089G>C | ENSP00000220419.8:p.Lys363Asn | |
| ENST00000396996.3:n.811G>C | ||
| ENST00000610827.4:c.1332G>C | ENSP00000479732.1:p.Lys444Asn | |
| ENST00000611276.4:c.1086G>C | ENSP00000482542.1:p.Lys362Asn | |
| ENST00000622115.1:c.1338G>C | ENSP00000479638.1:p.Lys446Asn | |
| NM_004245.3:c.1089G>C | NP_004236.1:p.Lys363Asn | |
| NM_201631.3:c.1335G>C | NP_963925.2:p.Lys445Asn | |
| XM_011522229.1:c.1335G>C | XP_011520531.1:p.Lys445Asn | |
| XM_011522230.1:c.306G>C | XP_011520532.1:p.Lys102Asn | |
| XR_931948.1:n.1509G>C | ||
| XM_011522230.2:c.306G>C | XP_011520532.1:p.Lys102Asn | |
| XM_017022729.1:c.306G>C | XP_016878218.1:p.Lys102Asn | |
| NM_004245.4:c.1089G>C | NP_004236.1:p.Lys363Asn | |
| NM_201631.4:c.1335G>C MANE Select | NP_963925.2:p.Lys445Asn |