Linked Data
dbSNP Id:
rs760880632
ExAC:
14:36987063 C / T
gnomAD v2:
14-36987063-C-T
gnomAD v4:
14-36517858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517858C>T , CM000676.2:g.36517858C>T | GRCh38 |
| NC_000014.8:g.36987063C>T , CM000676.1:g.36987063C>T | GRCh37 |
| NC_000014.7:g.36056814C>T | NCBI36 |
| NG_013365.1:g.7368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.536G>A (NKX2-1) | ENSP00000429519.4:p.Arg179His | |
| ENST00000354822.7:c.626G>A (NKX2-1) MANE Select | ENSP00000346879.6:p.Arg209His | |
| ENST00000521945.1:n.54+1610G>A | ||
| ENST00000522719.3:c.*663G>A (NKX2-1) | ENSP00000429519.3:n.*663G>A | |
| ENST00000546983.2:c.373+1127G>A | ENSP00000449302.2:n.373+1127G>A | |
| ENST00000354822.6:c.626G>A (NKX2-1) | ENSP00000346879.5:p.Arg209His | |
| ENST00000498187.6:c.536G>A (NKX2-1) | ENSP00000429607.2:p.Arg179His | |
| ENST00000518149.5:c.536G>A (NKX2-1) | ENSP00000428341.1:p.Arg179His | |
| ENST00000522719.2:c.536G>A (NKX2-1) | ENSP00000429519.2:p.Arg179His | |
| NM_001079668.2:c.626G>A (NKX2-1) | NP_001073136.1:p.Arg209His | |
| NM_003317.3:c.536G>A (NKX2-1) | NP_003308.1:p.Arg179His | |
| NM_001352986.1:c.-283+1610G>A (SFTA3) | NP_001339915.1:n.-283+1610G>A | |
| NM_001352987.1:c.-237+1610G>A (SFTA3) | NP_001339916.1:n.-237+1610G>A | |
| NM_001079668.3:c.626G>A (NKX2-1) MANE Select | NP_001073136.1:p.Arg209His | |
| NM_003317.4:c.536G>A (NKX2-1) | NP_003308.1:p.Arg179His | |
| NR_161364.1:n.89+1610G>A (SFTA3) | ||
| NR_161365.1:n.89+1610G>A (SFTA3) |