Linked Data
dbSNP Id:
rs938902626
gnomAD v2:
4-995730-C-G
gnomAD v3:
4-1001942-C-G
gnomAD v4:
4-1001942-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001942C>G , CM000666.2:g.1001942C>G | GRCh38 |
| NC_000004.11:g.995730C>G , CM000666.1:g.995730C>G | GRCh37 |
| NC_000004.10:g.985730C>G | NCBI36 |
| NG_008103.1:g.19946C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.793-40C>G | ENSP00000247933.4:n.793-40C>G | |
| ENST00000514224.2:c.793-40C>G MANE Select | ENSP00000425081.2:n.793-40C>G | |
| ENST00000652070.1:n.849-40C>G | ||
| ENST00000247933.8:c.793-40C>G | ENSP00000247933.4:n.793-40C>G | |
| ENST00000502910.5:c.652-40C>G | ENSP00000422952.1:n.652-40C>G | |
| ENST00000514192.5:c.610-40C>G | ENSP00000423685.1:n.610-40C>G | |
| ENST00000514224.1:c.397-40C>G | ENSP00000425081.1:n.397-40C>G | |
| ENST00000514698.5:n.753C>G | ||
| NM_000203.4:c.793-40C>G | NP_000194.2:n.793-40C>G | |
| NR_110313.1:n.881-40C>G | ||
| XM_006713882.2:c.397-40C>G | XP_006713945.1:n.397-40C>G | |
| XM_011513459.1:c.712C>G | XP_011511761.1:p.Arg238Gly | |
| XM_011513460.1:c.652-40C>G | XP_011511762.1:n.652-40C>G | |
| XM_011513461.1:c.586-40C>G | XP_011511763.1:n.586-40C>G | |
| XM_011513462.1:c.505-40C>G | XP_011511764.1:n.505-40C>G | |
| XM_011513463.1:c.505-40C>G | XP_011511765.1:n.505-40C>G | |
| XR_924947.1:n.862-40C>G | ||
| NM_000203.5:c.793-40C>G MANE Select | NP_000194.2:n.793-40C>G | |
| NM_001363576.1:c.397-40C>G | NP_001350505.1:n.397-40C>G | |
| XM_011513461.2:c.586-40C>G | XP_011511763.1:n.586-40C>G | |
| XM_017008163.1:c.-168-40C>G | XP_016863652.1:n.-168-40C>G |