Linked Data
dbSNP Id:
rs890119032
gnomAD v2:
9-100839477-T-C
gnomAD v3:
9-98077195-T-C
gnomAD v4:
9-98077195-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98077195T>C , CM000671.2:g.98077195T>C | GRCh38 |
| NC_000009.11:g.100839477T>C , CM000671.1:g.100839477T>C | GRCh37 |
| NC_000009.10:g.99879298T>C | NCBI36 |
| NG_052789.1:g.25519T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000210444.6:c.448+178T>C (NANS) MANE Select | ENSP00000210444.5:n.448+178T>C | |
| ENST00000210444.5:c.448+178T>C (NANS) | ENSP00000210444.5:n.448+178T>C | |
| ENST00000375098.7:c.*29-7508A>G (TRIM14) | ENSP00000364239.3:n.*29-7508A>G | |
| ENST00000415280.1:c.-107+178T>C (NANS) | ENSP00000404107.1:n.-107+178T>C | |
| ENST00000461452.1:n.2375+178T>C (NANS) | ||
| ENST00000495319.1:n.652+178T>C (NANS) | ||
| NM_018946.3:c.448+178T>C (NANS) | NP_061819.2:n.448+178T>C | |
| XM_011518787.1:c.100+178T>C (NANS) | XP_011517089.1:n.100+178T>C | |
| XM_011518788.1:c.71+179T>C (NANS) | XP_011517090.1:n.71+179T>C | |
| XM_011518787.2:c.100+178T>C (NANS) | XP_011517089.1:n.100+178T>C | |
| XM_011518788.2:c.71+179T>C (NANS) | XP_011517090.1:n.71+179T>C | |
| XM_017014811.1:c.-107+178T>C (NANS) | XP_016870300.1:n.-107+178T>C | |
| XM_017015352.2:c.*29-5029A>G (TRIM14) | XP_016870841.1:n.*29-5029A>G | |
| XM_024447574.1:c.100+178T>C (NANS) | XP_024303342.1:n.100+178T>C | |
| NM_018946.4:c.448+178T>C (NANS) MANE Select | NP_061819.2:n.448+178T>C |