Linked Data
dbSNP Id:
rs766133999
ExAC:
16:31196291 T / G
gnomAD v2:
16-31196291-T-G
gnomAD v3:
16-31184970-T-G
gnomAD v4:
16-31184970-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184970T>G , CM000678.2:g.31184970T>G | GRCh38 |
| NC_000016.9:g.31196291T>G , CM000678.1:g.31196291T>G | GRCh37 |
| NC_000016.8:g.31103792T>G | NCBI36 |
| NG_012889.2:g.9839T>G , LRG_655:g.9839T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.555T>G MANE Select | ENSP00000254108.8:p.Ser185Arg | |
| ENST00000254108.11:c.555T>G | ENSP00000254108.7:p.Ser185Arg | |
| ENST00000380244.7:c.552T>G | ENSP00000369594.3:p.Ser184Arg | |
| ENST00000487509.6:n.620T>G | ||
| ENST00000566605.5:c.555T>G | ENSP00000455073.1:p.Ser185Arg | |
| ENST00000568685.1:c.555T>G | ENSP00000455282.1:p.Ser185Arg | |
| NM_001170634.1:c.552T>G | NP_001164105.1:p.Ser184Arg | |
| NM_001170937.1:c.543T>G | NP_001164408.1:p.Ser181Arg | |
| NM_004960.3:c.555T>G , LRG_655t1:c.555T>G | NP_004951.1:p.Ser185Arg | |
| NR_028388.2:n.660T>G | ||
| XM_005255233.3:c.-26T>G | XP_005255290.1:n.-26T>G | |
| XM_011545781.1:c.549T>G | XP_011544083.1:p.Ser183Arg | |
| XM_011545782.1:c.-26T>G | XP_011544084.1:n.-26T>G | |
| XM_005255233.5:c.-26T>G | XP_005255290.1:n.-26T>G | |
| XM_011545782.2:c.-26T>G | XP_011544084.1:n.-26T>G | |
| XM_024450221.1:c.546T>G | XP_024305989.1:p.Ser182Arg | |
| NM_004960.4:c.555T>G MANE Select | NP_004951.1:p.Ser185Arg |