Linked Data
gnomAD v4:
16-173072-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173072A>C , CM000678.2:g.173072A>C | GRCh38 |
| NC_000016.9:g.223071A>C , CM000678.1:g.223071A>C | GRCh37 |
| NC_000016.8:g.163071A>C | NCBI36 |
| NG_000006.1:g.33935A>C | |
| NG_059186.1:g.1422A>C | |
| NG_059271.1:g.5226A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.96-53A>C MANE Select | ENSP00000251595.6:n.96-53A>C | |
| ENST00000251595.10:c.96-53A>C | ENSP00000251595.6:n.96-53A>C | |
| ENST00000397806.1:c.-1-53A>C | ENSP00000380908.1:n.-1-53A>C | |
| ENST00000482565.1:n.179A>C | ||
| ENST00000484216.1:n.65-53A>C | ||
| NM_000517.4:c.96-53A>C | NP_000508.1:n.96-53A>C | |
| NM_000517.6:c.96-53A>C MANE Select | NP_000508.1:n.96-53A>C |