ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043091 (AMR)
Genomes Max Group AF
0.00026026 (AMR)
Exomes Max Group AF
0.00042545 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42642563G>A , CM000665.2:g.42642563G>A | GRCh38 |
| NC_000003.11:g.42684055G>A , CM000665.1:g.42684055G>A | GRCh37 |
| NC_000003.10:g.42659059G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232978.13:c.4109G>A (NKTR) MANE Select | ENSP00000232978.8:p.Arg1370Gln | |
| ENST00000232978.12:c.4109G>A (NKTR) | ENSP00000232978.8:p.Arg1370Gln | |
| ENST00000429888.5:c.*3847G>A (NKTR) | ENSP00000404802.1:n.*3847G>A | |
| ENST00000617821.4:c.3209G>A (NKTR) | ENSP00000482143.1:p.Arg1070Gln | |
| NM_005385.3:c.4109G>A (NKTR) | NP_005376.2:p.Arg1370Gln | |
| NR_125400.1:n.395+11431C>T (ZBTB47-AS1) | ||
| XM_005265173.1:c.4109G>A (NKTR) | XP_005265230.1:p.Arg1370Gln | |
| XM_006713171.1:c.4028G>A (NKTR) | XP_006713234.1:p.Arg1343Gln | |
| XM_006713173.1:c.3779G>A (NKTR) | XP_006713236.1:p.Arg1260Gln | |
| XM_006713174.1:c.3779G>A (NKTR) | XP_006713237.1:p.Arg1260Gln | |
| XM_011533746.1:c.3350G>A (NKTR) | XP_011532048.1:p.Arg1117Gln | |
| XM_011533747.1:c.3350G>A (NKTR) | XP_011532049.1:p.Arg1117Gln | |
| XM_011533748.1:c.3350G>A (NKTR) | XP_011532050.1:p.Arg1117Gln | |
| XM_011533749.1:c.3350G>A (NKTR) | XP_011532051.1:p.Arg1117Gln | |
| XM_011533750.1:c.3350G>A (NKTR) | XP_011532052.1:p.Arg1117Gln | |
| NM_001349124.1:c.4109G>A (NKTR) | NP_001336053.1:p.Arg1370Gln | |
| NM_001349125.1:c.3350G>A (NKTR) | NP_001336054.1:p.Arg1117Gln | |
| NM_001349126.1:c.3005G>A (NKTR) | NP_001336055.1:p.Arg1002Gln | |
| XM_006713171.2:c.4028G>A (NKTR) | XP_006713234.1:p.Arg1343Gln | |
| XM_006713173.2:c.3779G>A (NKTR) | XP_006713236.1:p.Arg1260Gln | |
| XM_011533747.3:c.3350G>A (NKTR) | XP_011532049.1:p.Arg1117Gln | |
| XM_017006474.2:c.4028G>A (NKTR) | XP_016861963.1:p.Arg1343Gln | |
| XM_017006475.1:c.3350G>A (NKTR) | XP_016861964.1:p.Arg1117Gln | |
| XM_017006476.2:c.3209G>A (NKTR) | XP_016861965.1:p.Arg1070Gln | |
| XM_017006477.2:c.3209G>A (NKTR) | XP_016861966.1:p.Arg1070Gln | |
| XM_024453539.1:c.4109G>A (NKTR) | XP_024309307.1:p.Arg1370Gln | |
| XM_024453540.1:c.3779G>A (NKTR) | XP_024309308.1:p.Arg1260Gln | |
| XM_024453541.1:c.3350G>A (NKTR) | XP_024309309.1:p.Arg1117Gln | |
| XM_024453543.1:c.3005G>A (NKTR) | XP_024309311.1:p.Arg1002Gln | |
| XM_024453544.1:c.3005G>A (NKTR) | XP_024309312.1:p.Arg1002Gln | |
| XM_024453545.1:c.3005G>A (NKTR) | XP_024309313.1:p.Arg1002Gln | |
| XR_002959537.1:n.5506G>A (NKTR) | ||
| XR_940429.2:n.4247G>A (NKTR) | ||
| NM_005385.4:c.4109G>A (NKTR) MANE Select | NP_005376.2:p.Arg1370Gln | |
| NM_001349124.2:c.4109G>A (NKTR) | NP_001336053.1:p.Arg1370Gln | |
| NM_001349125.2:c.3350G>A (NKTR) | NP_001336054.1:p.Arg1117Gln | |
| NM_001349126.2:c.3005G>A (NKTR) | NP_001336055.1:p.Arg1002Gln |