Linked Data
gnomAD v4:
20-10645033-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10645033G>T , CM000682.2:g.10645033G>T | GRCh38 |
| NC_000020.10:g.10625681G>T , CM000682.1:g.10625681G>T | GRCh37 |
| NC_000020.9:g.10573681G>T | NCBI36 |
| NG_007496.1:g.34014C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2228-54C>A MANE Select | ENSP00000254958.4:n.2228-54C>A | |
| ENST00000617965.2:n.2817-54C>A | ||
| ENST00000254958.9:c.2228-54C>A | ENSP00000254958.4:n.2228-54C>A | |
| ENST00000423891.6:n.2094-54C>A | ||
| ENST00000488480.2:n.625-54C>A | ||
| NM_000214.2:c.2228-54C>A | NP_000205.1:n.2228-54C>A | |
| NM_000214.3:c.2228-54C>A MANE Select | NP_000205.1:n.2228-54C>A |