Linked Data
dbSNP Id:
rs758976399
ExAC:
1:17662678 C / G
gnomAD v2:
1-17662678-C-G
gnomAD v4:
1-17336183-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336183C>G , CM000663.2:g.17336183C>G | GRCh38 |
| NC_000001.10:g.17662678C>G , CM000663.1:g.17662678C>G | GRCh37 |
| NC_000001.9:g.17535265C>G | NCBI36 |
| NG_023261.2:g.32994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.365C>G MANE Select | ENSP00000364597.4:p.Thr122Ser | |
| NM_012387.2:c.365C>G | NP_036519.2:p.Thr122Ser | |
| XM_011541150.1:c.340+2174C>G | XP_011539452.1:n.340+2174C>G | |
| XM_011541151.1:c.365C>G | XP_011539453.1:p.Thr122Ser | |
| XM_011541152.1:c.-55C>G | XP_011539454.1:n.-55C>G | |
| XM_011541153.1:c.365C>G | XP_011539455.1:p.Thr122Ser | |
| XM_011541154.1:c.365C>G | XP_011539456.1:p.Thr122Ser | |
| XM_011541155.1:c.365C>G | XP_011539457.1:p.Thr122Ser | |
| XM_011541156.1:c.365C>G | XP_011539458.1:p.Thr122Ser | |
| XM_011541157.1:c.-348C>G | XP_011539459.1:n.-348C>G | |
| XM_011541154.2:c.365C>G | XP_011539456.1:p.Thr122Ser | |
| NM_012387.3:c.365C>G MANE Select | NP_036519.2:p.Thr122Ser |