Linked Data
dbSNP Id:
rs762588041
ExAC:
15:89424589 C / G
gnomAD v2:
15-89424589-C-G
gnomAD v3:
15-88881358-C-G
gnomAD v4:
15-88881358-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881358C>G , CM000677.2:g.88881358C>G | GRCh38 |
| NC_000015.9:g.89424589C>G , CM000677.1:g.89424589C>G | GRCh37 |
| NC_000015.8:g.87225593C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.492G>C MANE Select | ENSP00000352606.4:p.Arg164= | |
| ENST00000359595.7:c.492G>C | ENSP00000352606.3:p.Arg164= | |
| ENST00000558770.5:c.492G>C | ENSP00000456458.1:p.Arg164= | |
| ENST00000562281.1:c.492G>C | ENSP00000456985.1:p.Arg164= | |
| ENST00000562889.5:c.678G>C | ENSP00000457180.1:p.Arg226= | |
| ENST00000563808.1:n.594G>C | ||
| NM_001307952.1:c.678G>C | NP_001294881.1:p.Arg226= | |
| NM_178232.2:c.492G>C | NP_839946.1:p.Arg164= | |
| NM_178232.3:c.492G>C | NP_839946.1:p.Arg164= | |
| XM_011521261.1:c.624G>C | XP_011519563.1:p.Arg208= | |
| XR_243204.1:n.707G>C | ||
| XR_931756.1:n.813G>C | ||
| XM_017021934.2:c.678G>C | XP_016877423.1:p.Arg226= | |
| XM_017021935.2:c.113G>C | XP_016877424.1:p.Gly38Ala | |
| XM_017021936.2:c.113G>C | XP_016877425.1:p.Gly38Ala | |
| XR_001751098.2:n.825G>C | ||
| XR_931756.3:n.826G>C | ||
| NM_001307952.2:c.678G>C | NP_001294881.1:p.Arg226= | |
| NM_178232.4:c.492G>C MANE Select | NP_839946.1:p.Arg164= |