Linked Data
dbSNP Id:
rs1009145500
gnomAD v2:
9-100839120-T-A
gnomAD v3:
9-98076838-T-A
gnomAD v4:
9-98076838-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98076838T>A , CM000671.2:g.98076838T>A | GRCh38 |
| NC_000009.11:g.100839120T>A , CM000671.1:g.100839120T>A | GRCh37 |
| NC_000009.10:g.99878941T>A | NCBI36 |
| NG_052789.1:g.25162T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000210444.6:c.349-80T>A (NANS) MANE Select | ENSP00000210444.5:n.349-80T>A | |
| ENST00000210444.5:c.349-80T>A (NANS) | ENSP00000210444.5:n.349-80T>A | |
| ENST00000375098.7:c.*29-7151A>T (TRIM14) | ENSP00000364239.3:n.*29-7151A>T | |
| ENST00000415280.1:c.-286T>A (NANS) | ENSP00000404107.1:n.-286T>A | |
| ENST00000461452.1:n.2196T>A (NANS) | ||
| ENST00000495319.1:n.553-80T>A (NANS) | ||
| NM_018946.3:c.349-80T>A (NANS) | NP_061819.2:n.349-80T>A | |
| XM_011518787.1:c.1-80T>A (NANS) | XP_011517089.1:n.1-80T>A | |
| XM_011518787.2:c.1-80T>A (NANS) | XP_011517089.1:n.1-80T>A | |
| XM_017014811.1:c.-206-80T>A (NANS) | XP_016870300.1:n.-206-80T>A | |
| XM_017015352.2:c.*29-4672A>T (TRIM14) | XP_016870841.1:n.*29-4672A>T | |
| XM_024447574.1:c.-80T>A (NANS) | XP_024303342.1:n.-80T>A | |
| NM_018946.4:c.349-80T>A (NANS) MANE Select | NP_061819.2:n.349-80T>A |