Linked Data
dbSNP Id:
rs2157691
gnomAD v2:
1-158582838-G-C
gnomAD v3:
1-158613048-G-C
gnomAD v4:
1-158613048-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158613048G>C , CM000663.2:g.158613048G>C | GRCh38 |
| NC_000001.10:g.158582838G>C , CM000663.1:g.158582838G>C | GRCh37 |
| NC_000001.9:g.156849462G>C | NCBI36 |
| NG_011474.1:g.78669C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6990-87C>G MANE Select | ENSP00000495214.1:n.6990-87C>G | |
| ENST00000368147.8:c.6990-87C>G | ENSP00000357129.4:n.6990-87C>G | |
| ENST00000481212.5:n.431-87C>G | ||
| ENST00000498708.1:n.422-87C>G | ||
| ENST00000614909.4:c.6990-87C>G | ENSP00000482595.1:n.6990-87C>G | |
| NM_003126.2:c.6990-87C>G | NP_003117.2:n.6990-87C>G | |
| XM_011509916.1:c.6990-87C>G | XP_011508218.1:n.6990-87C>G | |
| XM_011509917.1:c.6972-87C>G | XP_011508219.1:n.6972-87C>G | |
| NM_003126.3:c.6990-87C>G | NP_003117.2:n.6990-87C>G | |
| XM_011509916.2:c.6990-87C>G | XP_011508218.1:n.6990-87C>G | |
| XM_011509917.3:c.6972-87C>G | XP_011508219.1:n.6972-87C>G | |
| NM_003126.4:c.6990-87C>G MANE Select | NP_003117.2:n.6990-87C>G |