Linked Data
ClinVar Variation Id:
313149
dbSNP Id:
rs2076751
gnomAD v2:
14-36989419-C-A
gnomAD v3:
14-36520214-C-A
gnomAD v4:
14-36520214-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36520214C>A , CM000676.2:g.36520214C>A | GRCh38 |
| NC_000014.8:g.36989419C>A , CM000676.1:g.36989419C>A | GRCh37 |
| NC_000014.7:g.36059170C>A | NCBI36 |
| NG_013365.1:g.5012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.-320G>T (NKX2-1) | ENSP00000429519.4:n.-320G>T | |
| ENST00000354822.7:c.-85G>T (NKX2-1) MANE Select | ENSP00000346879.6:n.-85G>T | |
| ENST00000522719.3:c.-85G>T (NKX2-1) | ENSP00000429519.3:n.-85G>T | |
| ENST00000546983.2:c.-14+343G>T | ENSP00000449302.2:n.-14+343G>T | |
| ENST00000354822.6:c.-85G>T (NKX2-1) | ENSP00000346879.5:n.-85G>T | |
| ENST00000518149.5:c.-14+343G>T (NKX2-1) | ENSP00000428341.1:n.-14+343G>T | |
| ENST00000546983.1:c.-85G>T (NKX2-1) | ENSP00000449302.1:n.-85G>T | |
| NM_001079668.2:c.-85G>T (NKX2-1) | NP_001073136.1:n.-85G>T | |
| NR_103710.1:n.402+535C>A (NKX2-1-AS1) | ||
| NM_001079668.3:c.-85G>T (NKX2-1) MANE Select | NP_001073136.1:n.-85G>T |