Linked Data
dbSNP Id:
rs1480185658
gnomAD v2:
12-46246517-A-G
gnomAD v3:
12-45852734-A-G
gnomAD v4:
12-45852734-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852734A>G , CM000674.2:g.45852734A>G | GRCh38 |
| NC_000012.11:g.46246517A>G , CM000674.1:g.46246517A>G | GRCh37 |
| NC_000012.10:g.44532784A>G | NCBI36 |
| NG_052800.1:g.128070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4611A>G | ENSP00000415650.3:p.Arg1537= | |
| ENST00000457135.2:c.820A>G | ||
| ENST00000334344.11:c.4611A>G MANE Select | ENSP00000335044.6:p.Arg1537= | |
| ENST00000422737.6:c.4532A>G | ||
| ENST00000334344.10:c.4611A>G | ENSP00000335044.6:p.Arg1537= | |
| ENST00000422737.5:c.4164A>G | ENSP00000415650.1:p.Arg1388= | |
| ENST00000444670.5:c.3441A>G | ENSP00000397307.1:p.Arg1147= | |
| ENST00000457135.1:c.435A>G | ENSP00000388357.1:p.Arg145= | |
| ENST00000479608.5:n.3902A>G | ||
| NM_152641.2:c.4611A>G | NP_689854.2:p.Arg1537= | |
| XM_006719272.2:c.4611A>G | XP_006719335.1:p.Arg1537= | |
| XM_011538025.1:c.2979A>G | XP_011536327.1:p.Arg993= | |
| XR_944505.1:n.4759A>G | ||
| NM_001347839.1:c.4611A>G | NP_001334768.1:p.Arg1537= | |
| NM_152641.3:c.4611A>G | NP_689854.2:p.Arg1537= | |
| XM_006719272.4:c.4611A>G | XP_006719335.1:p.Arg1537= | |
| XR_944505.3:n.4742A>G | ||
| NM_152641.4:c.4611A>G MANE Select | NP_689854.2:p.Arg1537= | |
| NM_001347839.2:c.4611A>G | NP_001334768.1:p.Arg1537= |