Linked Data
dbSNP Id:
rs745336917
gnomAD v2:
16-10633190-G-A
gnomAD v3:
16-10539333-G-A
gnomAD v4:
16-10539333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10539333G>A , CM000678.2:g.10539333G>A | GRCh38 |
| NC_000016.9:g.10633190G>A , CM000678.1:g.10633190G>A | GRCh37 |
| NC_000016.8:g.10540691G>A | NCBI36 |
| NG_042058.1:g.46384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359543.8:c.170-1259C>T MANE Select | ENSP00000352540.3:n.170-1259C>T | |
| ENST00000359543.7:c.170-1259C>T | ENSP00000352540.3:n.170-1259C>T | |
| ENST00000536829.1:c.170-1259C>T | ENSP00000445712.1:n.170-1259C>T | |
| NM_001424.4:c.170-1259C>T | NP_001415.1:n.170-1259C>T | |
| NM_001424.5:c.170-1259C>T | NP_001415.1:n.170-1259C>T | |
| XM_006720864.2:c.170-1259C>T | XP_006720927.1:n.170-1259C>T | |
| XM_006720864.3:c.170-1259C>T | XP_006720927.1:n.170-1259C>T | |
| NM_001424.6:c.170-1259C>T MANE Select | NP_001415.1:n.170-1259C>T |