Revel Score:
ENST00000344938
0.198
ENST00000310917
0.198
ENST00000344408 (MANE Select)
0.198
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00076996 (EAS)
Genomes Max Group AF
0.00148447 (EAS)
Exomes Max Group AF
0.0005865 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5615512C>G , CM000666.2:g.5615512C>G | GRCh38 |
| NC_000004.11:g.5617239C>G , CM000666.1:g.5617239C>G | GRCh37 |
| NC_000004.10:g.5668140C>G | NCBI36 |
| NG_015821.1:g.99037G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2739G>C MANE Select | ENSP00000342144.5:p.Lys913Asn | |
| ENST00000310917.6:c.2499G>C | ENSP00000311683.2:p.Lys833Asn | |
| ENST00000344408.9:c.2739G>C | ENSP00000342144.5:p.Lys913Asn | |
| ENST00000475313.5:c.2499G>C | ENSP00000431981.1:p.Lys833Asn | |
| ENST00000509670.1:c.*1132G>C | ENSP00000423876.1:n.*1132G>C | |
| NM_001166136.1:c.2499G>C | NP_001159608.1:p.Lys833Asn | |
| NM_147127.4:c.2739G>C | NP_667338.3:p.Lys913Asn | |
| XM_011513392.1:c.2748G>C | XP_011511694.1:p.Lys916Asn | |
| XM_011513393.1:c.2748G>C | XP_011511695.1:p.Lys916Asn | |
| XM_011513394.1:c.2508G>C | XP_011511696.1:p.Lys836Asn | |
| XM_017007736.1:c.2499G>C | XP_016863225.1:p.Lys833Asn | |
| XM_017007737.1:c.2499G>C | XP_016863226.1:p.Lys833Asn | |
| XM_017007738.1:c.2739G>C | XP_016863227.1:p.Lys913Asn | |
| XM_017007739.1:c.1059G>C | XP_016863228.1:p.Lys353Asn | |
| XM_024453893.1:c.1059G>C | XP_024309661.1:p.Lys353Asn | |
| XR_001741141.1:n.2804G>C | ||
| NM_147127.5:c.2739G>C MANE Select | NP_667338.3:p.Lys913Asn | |
| NM_001166136.2:c.2499G>C | NP_001159608.1:p.Lys833Asn |