Linked Data
dbSNP Id:
rs575412655
gnomAD v2:
9-100839046-A-T
gnomAD v3:
9-98076764-A-T
gnomAD v4:
9-98076764-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98076764A>T , CM000671.2:g.98076764A>T | GRCh38 |
| NC_000009.11:g.100839046A>T , CM000671.1:g.100839046A>T | GRCh37 |
| NC_000009.10:g.99878867A>T | NCBI36 |
| NG_052789.1:g.25088A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000210444.6:c.349-154A>T (NANS) MANE Select | ENSP00000210444.5:n.349-154A>T | |
| ENST00000210444.5:c.349-154A>T (NANS) | ENSP00000210444.5:n.349-154A>T | |
| ENST00000375098.7:c.*29-7077T>A (TRIM14) | ENSP00000364239.3:n.*29-7077T>A | |
| ENST00000461452.1:n.2122A>T (NANS) | ||
| ENST00000495319.1:n.553-154A>T (NANS) | ||
| NM_018946.3:c.349-154A>T (NANS) | NP_061819.2:n.349-154A>T | |
| XM_011518787.1:c.1-154A>T (NANS) | XP_011517089.1:n.1-154A>T | |
| XM_011518787.2:c.1-154A>T (NANS) | XP_011517089.1:n.1-154A>T | |
| XM_017014811.1:c.-206-154A>T (NANS) | XP_016870300.1:n.-206-154A>T | |
| XM_017015352.2:c.*29-4598T>A (TRIM14) | XP_016870841.1:n.*29-4598T>A | |
| XM_024447574.1:c.-154A>T (NANS) | XP_024303342.1:n.-154A>T | |
| NM_018946.4:c.349-154A>T (NANS) MANE Select | NP_061819.2:n.349-154A>T |