Linked Data
ClinVar Variation Id:
313145
dbSNP Id:
rs886050484
gnomAD v2:
14-36988218-G-C
gnomAD v3:
14-36519013-G-C
gnomAD v4:
14-36519013-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36519013G>C , CM000676.2:g.36519013G>C | GRCh38 |
| NC_000014.8:g.36988218G>C , CM000676.1:g.36988218G>C | GRCh37 |
| NC_000014.7:g.36057969G>C | NCBI36 |
| NG_013365.1:g.6213C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.345C>G (NKX2-1) | ENSP00000429519.4:p.Gly115= | |
| ENST00000354822.7:c.435C>G (NKX2-1) MANE Select | ENSP00000346879.6:p.Gly145= | |
| ENST00000521945.1:n.54+455C>G | ||
| ENST00000522719.3:c.*472C>G (NKX2-1) | ENSP00000429519.3:n.*472C>G | |
| ENST00000546983.2:c.345C>G | ENSP00000449302.2:p.Gly115= | |
| ENST00000354822.6:c.435C>G (NKX2-1) | ENSP00000346879.5:p.Gly145= | |
| ENST00000498187.6:c.345C>G (NKX2-1) | ENSP00000429607.2:p.Gly115= | |
| ENST00000518149.5:c.345C>G (NKX2-1) | ENSP00000428341.1:p.Gly115= | |
| ENST00000522719.2:c.345C>G (NKX2-1) | ENSP00000429519.2:p.Gly115= | |
| NM_001079668.2:c.435C>G (NKX2-1) | NP_001073136.1:p.Gly145= | |
| NM_003317.3:c.345C>G (NKX2-1) | NP_003308.1:p.Gly115= | |
| NM_001352986.1:c.-283+455C>G (SFTA3) | NP_001339915.1:n.-283+455C>G | |
| NM_001352987.1:c.-237+455C>G (SFTA3) | NP_001339916.1:n.-237+455C>G | |
| NM_001079668.3:c.435C>G (NKX2-1) MANE Select | NP_001073136.1:p.Gly145= | |
| NM_003317.4:c.345C>G (NKX2-1) | NP_003308.1:p.Gly115= | |
| NR_161364.1:n.89+455C>G (SFTA3) | ||
| NR_161365.1:n.89+455C>G (SFTA3) |