Linked Data
dbSNP Id:
rs781187197
ExAC:
14:36987123 G / T
gnomAD v2:
14-36987123-G-T
gnomAD v3:
14-36517918-G-T
gnomAD v4:
14-36517918-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517918G>T , CM000676.2:g.36517918G>T | GRCh38 |
| NC_000014.8:g.36987123G>T , CM000676.1:g.36987123G>T | GRCh37 |
| NC_000014.7:g.36056874G>T | NCBI36 |
| NG_013365.1:g.7308C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.476C>A (NKX2-1) | ENSP00000429519.4:p.Ala159Glu | |
| ENST00000354822.7:c.566C>A (NKX2-1) MANE Select | ENSP00000346879.6:p.Ala189Glu | |
| ENST00000521945.1:n.54+1550C>A | ||
| ENST00000522719.3:c.*603C>A (NKX2-1) | ENSP00000429519.3:n.*603C>A | |
| ENST00000546983.2:c.373+1067C>A | ENSP00000449302.2:n.373+1067C>A | |
| ENST00000354822.6:c.566C>A (NKX2-1) | ENSP00000346879.5:p.Ala189Glu | |
| ENST00000498187.6:c.476C>A (NKX2-1) | ENSP00000429607.2:p.Ala159Glu | |
| ENST00000518149.5:c.476C>A (NKX2-1) | ENSP00000428341.1:p.Ala159Glu | |
| ENST00000522719.2:c.476C>A (NKX2-1) | ENSP00000429519.2:p.Ala159Glu | |
| NM_001079668.2:c.566C>A (NKX2-1) | NP_001073136.1:p.Ala189Glu | |
| NM_003317.3:c.476C>A (NKX2-1) | NP_003308.1:p.Ala159Glu | |
| NM_001352986.1:c.-283+1550C>A (SFTA3) | NP_001339915.1:n.-283+1550C>A | |
| NM_001352987.1:c.-237+1550C>A (SFTA3) | NP_001339916.1:n.-237+1550C>A | |
| NM_001079668.3:c.566C>A (NKX2-1) MANE Select | NP_001073136.1:p.Ala189Glu | |
| NM_003317.4:c.476C>A (NKX2-1) | NP_003308.1:p.Ala159Glu | |
| NR_161364.1:n.89+1550C>A (SFTA3) | ||
| NR_161365.1:n.89+1550C>A (SFTA3) |