Linked Data
dbSNP Id:
rs1397992595
gnomAD v2:
4-99998974-G-A
gnomAD v3:
4-99077823-G-A
gnomAD v4:
4-99077823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99077823G>A , CM000666.2:g.99077823G>A | GRCh38 |
| NC_000004.11:g.99998974G>A , CM000666.1:g.99998974G>A | GRCh37 |
| NC_000004.10:g.100217997G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296412.14:c.345-900C>T MANE Select | ENSP00000296412.8:n.345-900C>T | |
| ENST00000296412.13:c.345-900C>T | ENSP00000296412.8:n.345-900C>T | |
| ENST00000296412.12:c.345-900C>T | ENSP00000296412.8:n.345-900C>T | |
| ENST00000502590.5:c.*25-900C>T | ENSP00000422119.1:n.*25-900C>T | |
| ENST00000503130.5:c.306-900C>T | ENSP00000427049.1:n.306-900C>T | |
| ENST00000505652.1:c.*169-900C>T | ENSP00000421556.1:n.*169-900C>T | |
| ENST00000508511.5:n.362-900C>T | ||
| ENST00000512604.1:n.205-900C>T | ||
| ENST00000512621.5:n.333-900C>T | ||
| ENST00000512659.5:c.*32-900C>T | ENSP00000424650.1:n.*32-900C>T | |
| ENST00000512991.5:n.543-900C>T | ||
| ENST00000626055.2:c.*32-900C>T | ENSP00000487496.1:n.*32-900C>T | |
| NM_000671.4:c.345-900C>T MANE Select | NP_000662.3:n.345-900C>T |