Linked Data
dbSNP Id:
rs2076736
gnomAD v2:
14-36987323-G-T
gnomAD v3:
14-36518118-G-T
gnomAD v4:
14-36518118-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36518118G>T , CM000676.2:g.36518118G>T | GRCh38 |
| NC_000014.8:g.36987323G>T , CM000676.1:g.36987323G>T | GRCh37 |
| NC_000014.7:g.36057074G>T | NCBI36 |
| NG_013365.1:g.7108C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.374-98C>A (NKX2-1) | ENSP00000429519.4:n.374-98C>A | |
| ENST00000354822.7:c.464-98C>A (NKX2-1) MANE Select | ENSP00000346879.6:n.464-98C>A | |
| ENST00000521945.1:n.54+1350C>A | ||
| ENST00000522719.3:c.*501-98C>A (NKX2-1) | ENSP00000429519.3:n.*501-98C>A | |
| ENST00000546983.2:c.373+867C>A | ENSP00000449302.2:n.373+867C>A | |
| ENST00000354822.6:c.464-98C>A (NKX2-1) | ENSP00000346879.5:n.464-98C>A | |
| ENST00000498187.6:c.374-98C>A (NKX2-1) | ENSP00000429607.2:n.374-98C>A | |
| ENST00000518149.5:c.374-98C>A (NKX2-1) | ENSP00000428341.1:n.374-98C>A | |
| ENST00000522719.2:c.374-98C>A (NKX2-1) | ENSP00000429519.2:n.374-98C>A | |
| NM_001079668.2:c.464-98C>A (NKX2-1) | NP_001073136.1:n.464-98C>A | |
| NM_003317.3:c.374-98C>A (NKX2-1) | NP_003308.1:n.374-98C>A | |
| NM_001352986.1:c.-283+1350C>A (SFTA3) | NP_001339915.1:n.-283+1350C>A | |
| NM_001352987.1:c.-237+1350C>A (SFTA3) | NP_001339916.1:n.-237+1350C>A | |
| NM_001079668.3:c.464-98C>A (NKX2-1) MANE Select | NP_001073136.1:n.464-98C>A | |
| NM_003317.4:c.374-98C>A (NKX2-1) | NP_003308.1:n.374-98C>A | |
| NR_161364.1:n.89+1350C>A (SFTA3) | ||
| NR_161365.1:n.89+1350C>A (SFTA3) |