Linked Data
dbSNP Id:
rs1332906148
gnomAD v2:
20-10624628-C-T
gnomAD v3:
20-10643980-C-T
gnomAD v4:
20-10643980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643980C>T , CM000682.2:g.10643980C>T | GRCh38 |
| NC_000020.10:g.10624628C>T , CM000682.1:g.10624628C>T | GRCh37 |
| NC_000020.9:g.10572628C>T | NCBI36 |
| NG_007496.1:g.35067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-117G>A MANE Select | ENSP00000254958.4:n.2373-117G>A | |
| ENST00000617965.2:n.2962-117G>A | ||
| ENST00000254958.9:c.2373-117G>A | ENSP00000254958.4:n.2373-117G>A | |
| ENST00000423891.6:n.2239-117G>A | ||
| NM_000214.2:c.2373-117G>A | NP_000205.1:n.2373-117G>A | |
| NM_000214.3:c.2373-117G>A MANE Select | NP_000205.1:n.2373-117G>A |