Linked Data
dbSNP Id:
rs2138180642
gnomAD v4:
12-45852692-T-C
MyVariant Identifiers:
chr12:g.46246475T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852692T>C , CM000674.2:g.45852692T>C | GRCh38 |
| NC_000012.11:g.46246475T>C , CM000674.1:g.46246475T>C | GRCh37 |
| NC_000012.10:g.44532742T>C | NCBI36 |
| NG_052800.1:g.128028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4569T>C | ENSP00000415650.3:p.Asp1523= | |
| ENST00000457135.2:c.778T>C | ||
| ENST00000334344.11:c.4569T>C MANE Select | ENSP00000335044.6:p.Asp1523= | |
| ENST00000422737.6:c.4490T>C | ||
| ENST00000334344.10:c.4569T>C | ENSP00000335044.6:p.Asp1523= | |
| ENST00000422737.5:c.4122T>C | ENSP00000415650.1:p.Asp1374= | |
| ENST00000444670.5:c.3399T>C | ENSP00000397307.1:p.Asp1133= | |
| ENST00000457135.1:c.393T>C | ENSP00000388357.1:p.Asp131= | |
| ENST00000479608.5:n.3860T>C | ||
| NM_152641.2:c.4569T>C | NP_689854.2:p.Asp1523= | |
| XM_006719272.2:c.4569T>C | XP_006719335.1:p.Asp1523= | |
| XM_011538025.1:c.2937T>C | XP_011536327.1:p.Asp979= | |
| XR_944505.1:n.4717T>C | ||
| NM_001347839.1:c.4569T>C | NP_001334768.1:p.Asp1523= | |
| NM_152641.3:c.4569T>C | NP_689854.2:p.Asp1523= | |
| XM_006719272.4:c.4569T>C | XP_006719335.1:p.Asp1523= | |
| XR_944505.3:n.4700T>C | ||
| NM_152641.4:c.4569T>C MANE Select | NP_689854.2:p.Asp1523= | |
| NM_001347839.2:c.4569T>C | NP_001334768.1:p.Asp1523= |