Linked Data
gnomAD v4:
20-10643996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643996G>A , CM000682.2:g.10643996G>A | GRCh38 |
| NC_000020.10:g.10624644G>A , CM000682.1:g.10624644G>A | GRCh37 |
| NC_000020.9:g.10572644G>A | NCBI36 |
| NG_007496.1:g.35051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-133C>T MANE Select | ENSP00000254958.4:n.2373-133C>T | |
| ENST00000617965.2:n.2962-133C>T | ||
| ENST00000254958.9:c.2373-133C>T | ENSP00000254958.4:n.2373-133C>T | |
| ENST00000423891.6:n.2239-133C>T | ||
| NM_000214.2:c.2373-133C>T | NP_000205.1:n.2373-133C>T | |
| NM_000214.3:c.2373-133C>T MANE Select | NP_000205.1:n.2373-133C>T |