Linked Data
dbSNP Id:
rs1390057319
gnomAD v2:
12-46246437-G-C
gnomAD v3:
12-45852654-G-C
gnomAD v4:
12-45852654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852654G>C , CM000674.2:g.45852654G>C | GRCh38 |
| NC_000012.11:g.46246437G>C , CM000674.1:g.46246437G>C | GRCh37 |
| NC_000012.10:g.44532704G>C | NCBI36 |
| NG_052800.1:g.127990G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4531G>C | ENSP00000415650.3:p.Glu1511Gln | |
| ENST00000457135.2:c.740G>C | ||
| ENST00000334344.11:c.4531G>C MANE Select | ENSP00000335044.6:p.Glu1511Gln | |
| ENST00000422737.6:c.4452G>C | ||
| ENST00000334344.10:c.4531G>C | ENSP00000335044.6:p.Glu1511Gln | |
| ENST00000422737.5:c.4084G>C | ENSP00000415650.1:p.Glu1362Gln | |
| ENST00000444670.5:c.3361G>C | ENSP00000397307.1:p.Glu1121Gln | |
| ENST00000457135.1:c.355G>C | ENSP00000388357.1:p.Glu119Gln | |
| ENST00000479608.5:n.3822G>C | ||
| NM_152641.2:c.4531G>C | NP_689854.2:p.Glu1511Gln | |
| XM_006719272.2:c.4531G>C | XP_006719335.1:p.Glu1511Gln | |
| XM_011538025.1:c.2899G>C | XP_011536327.1:p.Glu967Gln | |
| XR_944505.1:n.4679G>C | ||
| NM_001347839.1:c.4531G>C | NP_001334768.1:p.Glu1511Gln | |
| NM_152641.3:c.4531G>C | NP_689854.2:p.Glu1511Gln | |
| XM_006719272.4:c.4531G>C | XP_006719335.1:p.Glu1511Gln | |
| XR_944505.3:n.4662G>C | ||
| NM_152641.4:c.4531G>C MANE Select | NP_689854.2:p.Glu1511Gln | |
| NM_001347839.2:c.4531G>C | NP_001334768.1:p.Glu1511Gln |