Linked Data
ClinVar Variation Id:
313130
dbSNP Id:
rs79849967
gnomAD v2:
14-36986047-T-G
gnomAD v3:
14-36516842-T-G
gnomAD v4:
14-36516842-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36516842T>G , CM000676.2:g.36516842T>G | GRCh38 |
| NC_000014.8:g.36986047T>G , CM000676.1:g.36986047T>G | GRCh37 |
| NC_000014.7:g.36055798T>G | NCBI36 |
| NG_013365.1:g.8384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354822.7:c.*436A>C (NKX2-1) MANE Select | ENSP00000346879.6:n.*436A>C | |
| ENST00000521945.1:n.54+2626A>C | ||
| ENST00000546983.2:c.373+2143A>C | ENSP00000449302.2:n.373+2143A>C | |
| ENST00000354822.6:c.*436A>C (NKX2-1) | ENSP00000346879.5:n.*436A>C | |
| ENST00000498187.6:c.*436A>C (NKX2-1) | ENSP00000429607.2:n.*436A>C | |
| ENST00000518149.5:c.*436A>C (NKX2-1) | ENSP00000428341.1:n.*436A>C | |
| NM_001079668.2:c.*436A>C (NKX2-1) | NP_001073136.1:n.*436A>C | |
| NM_003317.3:c.*436A>C (NKX2-1) | NP_003308.1:n.*436A>C | |
| NM_001352986.1:c.-283+2626A>C (SFTA3) | NP_001339915.1:n.-283+2626A>C | |
| NM_001352987.1:c.-237+2626A>C (SFTA3) | NP_001339916.1:n.-237+2626A>C | |
| NM_001079668.3:c.*436A>C (NKX2-1) MANE Select | NP_001073136.1:n.*436A>C | |
| NM_003317.4:c.*436A>C (NKX2-1) | NP_003308.1:n.*436A>C | |
| NR_161364.1:n.89+2626A>C (SFTA3) | ||
| NR_161365.1:n.89+2626A>C (SFTA3) |