Linked Data
ClinVar Variation Id:
313133
dbSNP Id:
rs10139625
gnomAD v2:
14-36986273-A-T
gnomAD v3:
14-36517068-A-T
gnomAD v4:
14-36517068-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517068A>T , CM000676.2:g.36517068A>T | GRCh38 |
| NC_000014.8:g.36986273A>T , CM000676.1:g.36986273A>T | GRCh37 |
| NC_000014.7:g.36056024A>T | NCBI36 |
| NG_013365.1:g.8158T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354822.7:c.*210T>A (NKX2-1) MANE Select | ENSP00000346879.6:n.*210T>A | |
| ENST00000521945.1:n.54+2400T>A | ||
| ENST00000546983.2:c.373+1917T>A | ENSP00000449302.2:n.373+1917T>A | |
| ENST00000354822.6:c.*210T>A (NKX2-1) | ENSP00000346879.5:n.*210T>A | |
| ENST00000498187.6:c.*210T>A (NKX2-1) | ENSP00000429607.2:n.*210T>A | |
| ENST00000518149.5:c.*210T>A (NKX2-1) | ENSP00000428341.1:n.*210T>A | |
| NM_001079668.2:c.*210T>A (NKX2-1) | NP_001073136.1:n.*210T>A | |
| NM_003317.3:c.*210T>A (NKX2-1) | NP_003308.1:n.*210T>A | |
| NM_001352986.1:c.-283+2400T>A (SFTA3) | NP_001339915.1:n.-283+2400T>A | |
| NM_001352987.1:c.-237+2400T>A (SFTA3) | NP_001339916.1:n.-237+2400T>A | |
| NM_001079668.3:c.*210T>A (NKX2-1) MANE Select | NP_001073136.1:n.*210T>A | |
| NM_003317.4:c.*210T>A (NKX2-1) | NP_003308.1:n.*210T>A | |
| NR_161364.1:n.89+2400T>A (SFTA3) | ||
| NR_161365.1:n.89+2400T>A (SFTA3) |