ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00073309 (SAS)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00076349 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42639398G>A , CM000665.2:g.42639398G>A | GRCh38 |
| NC_000003.11:g.42680890G>A , CM000665.1:g.42680890G>A | GRCh37 |
| NC_000003.10:g.42655894G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232978.13:c.3694G>A (NKTR) MANE Select | ENSP00000232978.8:p.Val1232Met | |
| ENST00000232978.12:c.3694G>A (NKTR) | ENSP00000232978.8:p.Val1232Met | |
| ENST00000429888.5:c.*3432G>A (NKTR) | ENSP00000404802.1:n.*3432G>A | |
| ENST00000617821.4:c.2794G>A (NKTR) | ENSP00000482143.1:p.Val932Met | |
| NM_005385.3:c.3694G>A (NKTR) | NP_005376.2:p.Val1232Met | |
| NR_125400.1:n.395+14596C>T (ZBTB47-AS1) | ||
| XM_005265173.1:c.3694G>A (NKTR) | XP_005265230.1:p.Val1232Met | |
| XM_006713171.1:c.3613G>A (NKTR) | XP_006713234.1:p.Val1205Met | |
| XM_006713173.1:c.3364G>A (NKTR) | XP_006713236.1:p.Val1122Met | |
| XM_006713174.1:c.3364G>A (NKTR) | XP_006713237.1:p.Val1122Met | |
| XM_011533746.1:c.2935G>A (NKTR) | XP_011532048.1:p.Val979Met | |
| XM_011533747.1:c.2935G>A (NKTR) | XP_011532049.1:p.Val979Met | |
| XM_011533748.1:c.2935G>A (NKTR) | XP_011532050.1:p.Val979Met | |
| XM_011533749.1:c.2935G>A (NKTR) | XP_011532051.1:p.Val979Met | |
| XM_011533750.1:c.2935G>A (NKTR) | XP_011532052.1:p.Val979Met | |
| NM_001349124.1:c.3694G>A (NKTR) | NP_001336053.1:p.Val1232Met | |
| NM_001349125.1:c.2935G>A (NKTR) | NP_001336054.1:p.Val979Met | |
| NM_001349126.1:c.2590G>A (NKTR) | NP_001336055.1:p.Val864Met | |
| XM_006713171.2:c.3613G>A (NKTR) | XP_006713234.1:p.Val1205Met | |
| XM_006713173.2:c.3364G>A (NKTR) | XP_006713236.1:p.Val1122Met | |
| XM_011533747.3:c.2935G>A (NKTR) | XP_011532049.1:p.Val979Met | |
| XM_017006474.2:c.3613G>A (NKTR) | XP_016861963.1:p.Val1205Met | |
| XM_017006475.1:c.2935G>A (NKTR) | XP_016861964.1:p.Val979Met | |
| XM_017006476.2:c.2794G>A (NKTR) | XP_016861965.1:p.Val932Met | |
| XM_017006477.2:c.2794G>A (NKTR) | XP_016861966.1:p.Val932Met | |
| XM_024453539.1:c.3694G>A (NKTR) | XP_024309307.1:p.Val1232Met | |
| XM_024453540.1:c.3364G>A (NKTR) | XP_024309308.1:p.Val1122Met | |
| XM_024453541.1:c.2935G>A (NKTR) | XP_024309309.1:p.Val979Met | |
| XM_024453543.1:c.2590G>A (NKTR) | XP_024309311.1:p.Val864Met | |
| XM_024453544.1:c.2590G>A (NKTR) | XP_024309312.1:p.Val864Met | |
| XM_024453545.1:c.2590G>A (NKTR) | XP_024309313.1:p.Val864Met | |
| XR_002959537.1:n.5091G>A (NKTR) | ||
| XR_940429.2:n.3832G>A (NKTR) | ||
| NM_005385.4:c.3694G>A (NKTR) MANE Select | NP_005376.2:p.Val1232Met | |
| NM_001349124.2:c.3694G>A (NKTR) | NP_001336053.1:p.Val1232Met | |
| NM_001349125.2:c.2935G>A (NKTR) | NP_001336054.1:p.Val979Met | |
| NM_001349126.2:c.2590G>A (NKTR) | NP_001336055.1:p.Val864Met |