Linked Data
dbSNP Id:
rs1156567341
gnomAD v2:
4-100342018-C-T
gnomAD v3:
4-99420861-C-T
gnomAD v4:
4-99420861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420861C>T , CM000666.2:g.99420861C>T | GRCh38 |
| NC_000004.11:g.100342018C>T , CM000666.1:g.100342018C>T | GRCh37 |
| NC_000004.10:g.100561041C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.565-68G>A MANE Select | ENSP00000414254.2:n.565-68G>A | |
| ENST00000209665.8:c.601-68G>A | ENSP00000209665.4:n.601-68G>A | |
| ENST00000437033.6:c.565-68G>A | ENSP00000414254.2:n.565-68G>A | |
| ENST00000476959.5:c.625-68G>A | ENSP00000420269.1:n.625-68G>A | |
| ENST00000482593.5:c.394-68G>A | ENSP00000420613.1:n.394-68G>A | |
| NM_000673.4:c.601-68G>A | NP_000664.2:n.601-68G>A | |
| NM_001166504.1:c.625-68G>A | NP_001159976.1:n.625-68G>A | |
| NM_000673.7:c.565-68G>A MANE Select | NP_000664.3:n.565-68G>A | |
| NM_001166504.2:c.625-68G>A | NP_001159976.1:n.625-68G>A |