Linked Data
dbSNP Id:
rs375846915
gnomAD v2:
1-17674445-G-C
gnomAD v3:
1-17347950-G-C
gnomAD v4:
1-17347950-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17347950G>C , CM000663.2:g.17347950G>C | GRCh38 |
| NC_000001.10:g.17674445G>C , CM000663.1:g.17674445G>C | GRCh37 |
| NC_000001.9:g.17547032G>C | NCBI36 |
| NG_023261.2:g.44761G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1057G>C MANE Select | ENSP00000364597.4:p.Glu353Gln | |
| ENST00000468945.1:n.116G>C | ||
| ENST00000487048.5:n.24G>C | ||
| NM_012387.2:c.1057G>C | NP_036519.2:p.Glu353Gln | |
| XM_011541150.1:c.871G>C | XP_011539452.1:p.Glu291Gln | |
| XM_011541151.1:c.1057G>C | XP_011539453.1:p.Glu353Gln | |
| XM_011541152.1:c.520G>C | XP_011539454.1:p.Glu174Gln | |
| XM_011541153.1:c.1057G>C | XP_011539455.1:p.Glu353Gln | |
| XM_011541154.1:c.1057G>C | XP_011539456.1:p.Glu353Gln | |
| XM_011541155.1:c.1057G>C | XP_011539457.1:p.Glu353Gln | |
| XM_011541156.1:c.1057G>C | XP_011539458.1:p.Glu353Gln | |
| XM_011541157.1:c.166G>C | XP_011539459.1:p.Glu56Gln | |
| XM_011541154.2:c.1057G>C | XP_011539456.1:p.Glu353Gln | |
| NM_012387.3:c.1057G>C MANE Select | NP_036519.2:p.Glu353Gln |