Linked Data
dbSNP Id:
rs202189094
ExAC:
4:100341681 G / T
gnomAD v2:
4-100341681-G-T
gnomAD v4:
4-99420524-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420524G>T , CM000666.2:g.99420524G>T | GRCh38 |
| NC_000004.11:g.100341681G>T , CM000666.1:g.100341681G>T | GRCh37 |
| NC_000004.10:g.100560704G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.825+9C>A MANE Select | ENSP00000414254.2:n.825+9C>A | |
| ENST00000209665.8:c.861+9C>A | ENSP00000209665.4:n.861+9C>A | |
| ENST00000437033.6:c.825+9C>A | ENSP00000414254.2:n.825+9C>A | |
| ENST00000476959.5:c.885+9C>A | ENSP00000420269.1:n.885+9C>A | |
| ENST00000482593.5:c.654+9C>A | ENSP00000420613.1:n.654+9C>A | |
| NM_000673.4:c.861+9C>A | NP_000664.2:n.861+9C>A | |
| NM_001166504.1:c.885+9C>A | NP_001159976.1:n.885+9C>A | |
| NM_000673.7:c.825+9C>A MANE Select | NP_000664.3:n.825+9C>A | |
| NM_001166504.2:c.885+9C>A | NP_001159976.1:n.885+9C>A |