Linked Data
dbSNP Id:
rs778258413
ExAC:
20:10625488 G / A
gnomAD v2:
20-10625488-G-A
gnomAD v4:
20-10644840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644840G>A , CM000682.2:g.10644840G>A | GRCh38 |
| NC_000020.10:g.10625488G>A , CM000682.1:g.10625488G>A | GRCh37 |
| NC_000020.9:g.10573488G>A | NCBI36 |
| NG_007496.1:g.34207C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2344+23C>T MANE Select | ENSP00000254958.4:n.2344+23C>T | |
| ENST00000617965.2:n.2933+23C>T | ||
| ENST00000254958.9:c.2344+23C>T | ENSP00000254958.4:n.2344+23C>T | |
| ENST00000423891.6:n.2210+23C>T | ||
| ENST00000488480.2:n.764C>T | ||
| NM_000214.2:c.2344+23C>T | NP_000205.1:n.2344+23C>T | |
| NM_000214.3:c.2344+23C>T MANE Select | NP_000205.1:n.2344+23C>T |