ClinVar RCV:
ClinVar Variation:
COSMIC:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000195 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42621483G>A , CM000665.2:g.42621483G>A | GRCh38 |
| NC_000003.11:g.42662975G>A , CM000665.1:g.42662975G>A | GRCh37 |
| NC_000003.10:g.42637979G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232978.13:c.341G>A (NKTR) MANE Select | ENSP00000232978.8:p.Arg114Gln | |
| ENST00000232978.12:c.341G>A (NKTR) | ENSP00000232978.8:p.Arg114Gln | |
| ENST00000429888.5:c.*51G>A (NKTR) | ENSP00000404802.1:n.*51G>A | |
| ENST00000465584.5:n.1665G>A (NKTR) | ||
| ENST00000466553.1:n.479G>A (NKTR) | ||
| ENST00000468735.6:n.2437G>A (NKTR) | ||
| ENST00000478488.1:n.396G>A (NKTR) | ||
| ENST00000487466.5:n.2191G>A (NKTR) | ||
| ENST00000617821.4:c.-588G>A (NKTR) | ENSP00000482143.1:n.-588G>A | |
| NM_005385.3:c.341G>A (NKTR) | NP_005376.2:p.Arg114Gln | |
| NR_125400.1:n.444+2281C>T (ZBTB47-AS1) | ||
| XM_005265173.1:c.341G>A (NKTR) | XP_005265230.1:p.Arg114Gln | |
| XM_006713171.1:c.341G>A (NKTR) | XP_006713234.1:p.Arg114Gln | |
| XM_006713173.1:c.11G>A (NKTR) | XP_006713236.1:p.Arg4Gln | |
| XM_006713174.1:c.11G>A (NKTR) | XP_006713237.1:p.Arg4Gln | |
| XM_011533746.1:c.-3765G>A (NKTR) | XP_011532048.1:n.-3765G>A | |
| XM_011533747.1:c.-3765G>A (NKTR) | XP_011532049.1:n.-3765G>A | |
| XM_011533748.1:c.-1027G>A (NKTR) | XP_011532050.1:n.-1027G>A | |
| XM_011533749.1:c.-447G>A (NKTR) | XP_011532051.1:n.-447G>A | |
| XM_011533750.1:c.-447G>A (NKTR) | XP_011532052.1:n.-447G>A | |
| XR_940429.1:n.483G>A (NKTR) | ||
| XR_940430.1:n.483G>A (NKTR) | ||
| NM_001349124.1:c.341G>A (NKTR) | NP_001336053.1:p.Arg114Gln | |
| NM_001349125.1:c.-447G>A (NKTR) | NP_001336054.1:n.-447G>A | |
| NM_001349126.1:c.-788G>A (NKTR) | NP_001336055.1:n.-788G>A | |
| XM_006713171.2:c.341G>A (NKTR) | XP_006713234.1:p.Arg114Gln | |
| XM_006713173.2:c.11G>A (NKTR) | XP_006713236.1:p.Arg4Gln | |
| XM_011533747.3:c.-3765G>A (NKTR) | XP_011532049.1:n.-3765G>A | |
| XM_017006474.2:c.341G>A (NKTR) | XP_016861963.1:p.Arg114Gln | |
| XM_017006475.1:c.-447G>A (NKTR) | XP_016861964.1:n.-447G>A | |
| XM_017006476.2:c.-3925G>A (NKTR) | XP_016861965.1:n.-3925G>A | |
| XM_017006477.2:c.-579G>A (NKTR) | XP_016861966.1:n.-579G>A | |
| XM_024453539.1:c.341G>A (NKTR) | XP_024309307.1:p.Arg114Gln | |
| XM_024453540.1:c.11G>A (NKTR) | XP_024309308.1:p.Arg4Gln | |
| XM_024453541.1:c.-447G>A (NKTR) | XP_024309309.1:n.-447G>A | |
| XM_024453543.1:c.-760G>A (NKTR) | XP_024309311.1:n.-760G>A | |
| XM_024453544.1:c.-1516G>A (NKTR) | XP_024309312.1:n.-1516G>A | |
| XM_024453545.1:c.-1516G>A (NKTR) | XP_024309313.1:n.-1516G>A | |
| XR_002959537.1:n.982G>A (NKTR) | ||
| XR_940429.2:n.483G>A (NKTR) | ||
| NM_005385.4:c.341G>A (NKTR) MANE Select | NP_005376.2:p.Arg114Gln | |
| NM_001349124.2:c.341G>A (NKTR) | NP_001336053.1:p.Arg114Gln | |
| NM_001349125.2:c.-447G>A (NKTR) | NP_001336054.1:n.-447G>A | |
| NM_001349126.2:c.-788G>A (NKTR) | NP_001336055.1:n.-788G>A |