Linked Data
dbSNP Id:
rs760055497
ExAC:
15:89424680 T / C
gnomAD v2:
15-89424680-T-C
gnomAD v4:
15-88881449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881449T>C , CM000677.2:g.88881449T>C | GRCh38 |
| NC_000015.9:g.89424680T>C , CM000677.1:g.89424680T>C | GRCh37 |
| NC_000015.8:g.87225684T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.401A>G MANE Select | ENSP00000352606.4:p.Gln134Arg | |
| ENST00000359595.7:c.401A>G | ENSP00000352606.3:p.Gln134Arg | |
| ENST00000558770.5:c.401A>G | ENSP00000456458.1:p.Gln134Arg | |
| ENST00000562281.1:c.401A>G | ENSP00000456985.1:p.Gln134Arg | |
| ENST00000562889.5:c.587A>G | ENSP00000457180.1:p.Gln196Arg | |
| ENST00000563808.1:n.503A>G | ||
| NM_001307952.1:c.587A>G | NP_001294881.1:p.Gln196Arg | |
| NM_178232.2:c.401A>G | NP_839946.1:p.Gln134Arg | |
| NM_178232.3:c.401A>G | NP_839946.1:p.Gln134Arg | |
| XM_011521261.1:c.533A>G | XP_011519563.1:p.Gln178Arg | |
| XR_243204.1:n.616A>G | ||
| XR_931756.1:n.722A>G | ||
| XM_017021934.2:c.587A>G | XP_016877423.1:p.Gln196Arg | |
| XM_017021935.2:c.22A>G | XP_016877424.1:p.Arg8Gly | |
| XM_017021936.2:c.22A>G | XP_016877425.1:p.Arg8Gly | |
| XR_001751098.2:n.734A>G | ||
| XR_931756.3:n.735A>G | ||
| NM_001307952.2:c.587A>G | NP_001294881.1:p.Gln196Arg | |
| NM_178232.4:c.401A>G MANE Select | NP_839946.1:p.Gln134Arg |