Linked Data
ClinVar Variation Id:
8980
dbSNP Id:
rs137852694
gnomAD v4:
14-36517739-G-A
PubMed:
PMID:16220345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517739G>A , CM000676.2:g.36517739G>A | GRCh38 |
| NC_000014.8:g.36986944G>A , CM000676.1:g.36986944G>A | GRCh37 |
| NC_000014.7:g.36056695G>A | NCBI36 |
| NG_013365.1:g.7487C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000522719.4:c.655C>T (NKX2-1) | ENSP00000429519.4:p.Gln219Ter | |
| ENST00000354822.7:c.745C>T (NKX2-1) MANE Select | ENSP00000346879.6:p.Gln249Ter | |
| ENST00000521945.1:n.54+1729C>T | ||
| ENST00000522719.3:c.*782C>T (NKX2-1) | ENSP00000429519.3:n.*782C>T | |
| ENST00000546983.2:c.373+1246C>T | ENSP00000449302.2:n.373+1246C>T | |
| ENST00000354822.6:c.745C>T (NKX2-1) | ENSP00000346879.5:p.Gln249Ter | |
| ENST00000498187.6:c.655C>T (NKX2-1) | ENSP00000429607.2:p.Gln219Ter | |
| ENST00000518149.5:c.655C>T (NKX2-1) | ENSP00000428341.1:p.Gln219Ter | |
| ENST00000522719.2:c.655C>T (NKX2-1) | ENSP00000429519.2:p.Gln219Ter | |
| NM_001079668.2:c.745C>T (NKX2-1) | NP_001073136.1:p.Gln249Ter | |
| NM_003317.3:c.655C>T (NKX2-1) | NP_003308.1:p.Gln219Ter | |
| NM_001352986.1:c.-283+1729C>T (SFTA3) | NP_001339915.1:n.-283+1729C>T | |
| NM_001352987.1:c.-237+1729C>T (SFTA3) | NP_001339916.1:n.-237+1729C>T | |
| NM_001079668.3:c.745C>T (NKX2-1) MANE Select | NP_001073136.1:p.Gln249Ter | |
| NM_003317.4:c.655C>T (NKX2-1) | NP_003308.1:p.Gln219Ter | |
| NR_161364.1:n.89+1729C>T (SFTA3) | ||
| NR_161365.1:n.89+1729C>T (SFTA3) |