Linked Data
dbSNP Id:
rs747801007
ExAC:
17:8135418 T / C
gnomAD v2:
17-8135418-T-C
gnomAD v4:
17-8232100-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232100T>C , CM000679.2:g.8232100T>C | GRCh38 |
| NC_000017.10:g.8135418T>C , CM000679.1:g.8135418T>C | GRCh37 |
| NC_000017.9:g.8076143T>C | NCBI36 |
| NG_032148.1:g.20996A>G | |
| NG_032148.2:g.20996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2188A>G | ENSP00000462607.2:p.Ser730Gly | |
| ENST00000581729.2:c.2188A>G | ENSP00000462720.2:p.Ser730Gly | |
| ENST00000581967.2:n.2640A>G | ||
| ENST00000583254.2:n.2894A>G | ||
| ENST00000699849.1:c.1291A>G | ENSP00000514647.1:p.Ser431Gly | |
| ENST00000699850.1:n.1451A>G | ||
| ENST00000699851.1:n.2210A>G | ||
| ENST00000699852.1:c.*864A>G | ENSP00000514648.1:n.*864A>G | |
| ENST00000699853.1:c.2188A>G | ENSP00000514649.1:p.Ser730Gly | |
| ENST00000699854.1:n.1981A>G | ||
| ENST00000699855.1:n.2640A>G | ||
| ENST00000699856.1:c.2188A>G | ENSP00000514650.1:p.Ser730Gly | |
| ENST00000699857.1:n.2196A>G | ||
| ENST00000699858.1:c.*801A>G | ENSP00000514651.1:n.*801A>G | |
| ENST00000699859.1:c.2059A>G | ENSP00000514652.1:p.Ser687Gly | |
| ENST00000699860.1:n.294A>G | ||
| ENST00000699861.1:n.2210A>G | ||
| ENST00000699862.1:n.3148A>G | ||
| ENST00000449476.7:c.2083A>G | ENSP00000396018.2:p.Ser695Gly | |
| ENST00000581671.2:n.2177A>G | ||
| ENST00000643543.1:c.*895A>G | ENSP00000494323.1:n.*895A>G | |
| ENST00000651323.1:c.2188A>G MANE Select | ENSP00000498499.1:p.Ser730Gly | |
| ENST00000315684.12:c.2188A>G | ENSP00000313759.8:p.Ser730Gly | |
| ENST00000449476.6:c.2083A>G | ENSP00000396018.2:p.Ser695Gly | |
| ENST00000578240.1:n.416A>G | ||
| ENST00000578537.1:c.84A>G | ||
| NM_025099.5:c.2188A>G | NP_079375.3:p.Ser730Gly | |
| NR_046431.1:n.2142A>G | ||
| XM_006721577.2:c.2059A>G | XP_006721640.1:p.Ser687Gly | |
| XM_006721578.2:c.2188A>G | XP_006721641.1:p.Ser730Gly | |
| XM_006721579.2:c.2188A>G | XP_006721642.1:p.Ser730Gly | |
| XM_011524010.1:c.2083A>G | XP_011522312.1:p.Ser695Gly | |
| XM_011524011.1:c.1291A>G | XP_011522313.1:p.Ser431Gly | |
| XR_429823.2:n.2231A>G | ||
| XR_429824.2:n.2231A>G | ||
| XR_429825.1:n.2231A>G | ||
| NM_025099.6:c.2188A>G MANE Select | NP_079375.3:p.Ser730Gly | |
| XM_006721577.3:c.2059A>G | XP_006721640.1:p.Ser687Gly | |
| XM_006721578.3:c.2188A>G | XP_006721641.1:p.Ser730Gly | |
| XM_011524010.2:c.2083A>G | XP_011522312.1:p.Ser695Gly | |
| XM_011524011.2:c.1291A>G | XP_011522313.1:p.Ser431Gly | |
| XR_001752639.1:n.2102A>G | ||
| XR_001752640.1:n.2231A>G | ||
| XR_001752641.1:n.2231A>G | ||
| XR_001752642.1:n.2231A>G | ||
| XR_001752643.1:n.2661A>G | ||
| XR_002958073.1:n.2231A>G | ||
| XR_429823.3:n.2231A>G | ||
| XR_429824.3:n.2231A>G | ||
| NR_046431.2:n.2103A>G |