Linked Data
ClinVar Variation Id:
313140
dbSNP Id:
rs147542347
ExAC:
14:36986596 C / A
gnomAD v2:
14-36986596-C-A
gnomAD v3:
14-36517391-C-A
gnomAD v4:
14-36517391-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517391C>A , CM000676.2:g.36517391C>A | GRCh38 |
| NC_000014.8:g.36986596C>A , CM000676.1:g.36986596C>A | GRCh37 |
| NC_000014.7:g.36056347C>A | NCBI36 |
| NG_013365.1:g.7835G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.1003G>T (NKX2-1) | ENSP00000429519.4:p.Ala335Ser | |
| ENST00000354822.7:c.1093G>T (NKX2-1) MANE Select | ENSP00000346879.6:p.Ala365Ser | |
| ENST00000521945.1:n.54+2077G>T | ||
| ENST00000522719.3:c.*1130G>T (NKX2-1) | ENSP00000429519.3:n.*1130G>T | |
| ENST00000546983.2:c.373+1594G>T | ENSP00000449302.2:n.373+1594G>T | |
| ENST00000354822.6:c.1093G>T (NKX2-1) | ENSP00000346879.5:p.Ala365Ser | |
| ENST00000498187.6:c.1003G>T (NKX2-1) | ENSP00000429607.2:p.Ala335Ser | |
| ENST00000518149.5:c.1003G>T (NKX2-1) | ENSP00000428341.1:p.Ala335Ser | |
| ENST00000522719.2:c.1003G>T (NKX2-1) | ENSP00000429519.2:p.Ala335Ser | |
| NM_001079668.2:c.1093G>T (NKX2-1) | NP_001073136.1:p.Ala365Ser | |
| NM_003317.3:c.1003G>T (NKX2-1) | NP_003308.1:p.Ala335Ser | |
| NM_001352986.1:c.-283+2077G>T (SFTA3) | NP_001339915.1:n.-283+2077G>T | |
| NM_001352987.1:c.-237+2077G>T (SFTA3) | NP_001339916.1:n.-237+2077G>T | |
| NM_001079668.3:c.1093G>T (NKX2-1) MANE Select | NP_001073136.1:p.Ala365Ser | |
| NM_003317.4:c.1003G>T (NKX2-1) | NP_003308.1:p.Ala335Ser | |
| NR_161364.1:n.89+2077G>T (SFTA3) | ||
| NR_161365.1:n.89+2077G>T (SFTA3) |