Linked Data
dbSNP Id:
rs945665906
gnomAD v2:
18-7015583-T-C
gnomAD v3:
18-7015584-T-C
gnomAD v4:
18-7015584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015584T>C , CM000680.2:g.7015584T>C | GRCh38 |
| NC_000018.9:g.7015583T>C , CM000680.1:g.7015583T>C | GRCh37 |
| NC_000018.8:g.7005583T>C | NCBI36 |
| NG_034251.1:g.107231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3126+138A>G MANE Select | ENSP00000374309.3:n.3126+138A>G | |
| ENST00000389658.3:c.3126+138A>G | ENSP00000374309.3:n.3126+138A>G | |
| ENST00000579014.5:n.4141+138A>G | ||
| NM_005559.3:c.3126+138A>G | NP_005550.2:n.3126+138A>G | |
| XM_011525655.1:c.3126+138A>G | XP_011523957.1:n.3126+138A>G | |
| XM_011525656.1:c.1554+138A>G | XP_011523958.1:n.1554+138A>G | |
| XM_011525657.1:c.3126+138A>G | XP_011523959.1:n.3126+138A>G | |
| XM_011525655.2:c.3126+138A>G | XP_011523957.1:n.3126+138A>G | |
| XM_011525656.2:c.1554+138A>G | XP_011523958.1:n.1554+138A>G | |
| NM_005559.4:c.3126+138A>G MANE Select | NP_005550.2:n.3126+138A>G |