Linked Data
dbSNP Id:
rs751951989
ExAC:
17:45360736 C / G
gnomAD v2:
17-45360736-C-G
gnomAD v4:
17-47283370-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283370C>G , CM000679.2:g.47283370C>G | GRCh38 |
| NC_000017.10:g.45360736C>G , CM000679.1:g.45360736C>G | GRCh37 |
| NC_000017.9:g.42715735C>G | NCBI36 |
| NG_008332.2:g.34529C>G , LRG_481:g.34529C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696963.1:c.182C>G | ENSP00000513002.1:p.Ser61Ter | |
| ENST00000559488.7:c.182C>G MANE Select | ENSP00000452786.2:p.Ser61Ter | |
| ENST00000559488.5:c.182C>G | ENSP00000452786.1:p.Ser61Ter | |
| ENST00000560629.1:c.147C>G | ||
| ENST00000571680.1:c.182C>G | ENSP00000461626.1:p.Ser61Ter | |
| NM_000212.2:c.182C>G , LRG_481t1:c.182C>G | NP_000203.2:p.Ser61Ter | |
| NM_000212.3:c.182C>G MANE Select | NP_000203.2:p.Ser61Ter |