Linked Data
ClinVar Variation Id:
313148
dbSNP Id:
rs886050485
gnomAD v2:
14-36989405-G-T
gnomAD v3:
14-36520200-G-T
gnomAD v4:
14-36520200-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36520200G>T , CM000676.2:g.36520200G>T | GRCh38 |
| NC_000014.8:g.36989405G>T , CM000676.1:g.36989405G>T | GRCh37 |
| NC_000014.7:g.36059156G>T | NCBI36 |
| NG_013365.1:g.5026C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.-306C>A (NKX2-1) | ENSP00000429519.4:n.-306C>A | |
| ENST00000354822.7:c.-71C>A (NKX2-1) MANE Select | ENSP00000346879.6:n.-71C>A | |
| ENST00000522719.3:c.-71C>A (NKX2-1) | ENSP00000429519.3:n.-71C>A | |
| ENST00000546983.2:c.-14+357C>A | ENSP00000449302.2:n.-14+357C>A | |
| ENST00000354822.6:c.-71C>A (NKX2-1) | ENSP00000346879.5:n.-71C>A | |
| ENST00000518149.5:c.-14+357C>A (NKX2-1) | ENSP00000428341.1:n.-14+357C>A | |
| ENST00000546983.1:c.-71C>A (NKX2-1) | ENSP00000449302.1:n.-71C>A | |
| NM_001079668.2:c.-71C>A (NKX2-1) | NP_001073136.1:n.-71C>A | |
| NR_103710.1:n.402+521G>T (NKX2-1-AS1) | ||
| NM_001079668.3:c.-71C>A (NKX2-1) MANE Select | NP_001073136.1:n.-71C>A |