Linked Data
dbSNP Id:
rs751402052
ExAC:
16:31196293 G / T
gnomAD v2:
16-31196293-G-T
gnomAD v3:
16-31184972-G-T
gnomAD v4:
16-31184972-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184972G>T , CM000678.2:g.31184972G>T | GRCh38 |
| NC_000016.9:g.31196293G>T , CM000678.1:g.31196293G>T | GRCh37 |
| NC_000016.8:g.31103794G>T | NCBI36 |
| NG_012889.2:g.9841G>T , LRG_655:g.9841G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.557G>T MANE Select | ENSP00000254108.8:p.Ser186Ile | |
| ENST00000254108.11:c.557G>T | ENSP00000254108.7:p.Ser186Ile | |
| ENST00000380244.7:c.554G>T | ENSP00000369594.3:p.Ser185Ile | |
| ENST00000487509.6:n.622G>T | ||
| ENST00000566605.5:c.557G>T | ENSP00000455073.1:p.Ser186Ile | |
| ENST00000568685.1:c.557G>T | ENSP00000455282.1:p.Ser186Ile | |
| NM_001170634.1:c.554G>T | NP_001164105.1:p.Ser185Ile | |
| NM_001170937.1:c.545G>T | NP_001164408.1:p.Ser182Ile | |
| NM_004960.3:c.557G>T , LRG_655t1:c.557G>T | NP_004951.1:p.Ser186Ile | |
| NR_028388.2:n.662G>T | ||
| XM_005255233.3:c.-24G>T | XP_005255290.1:n.-24G>T | |
| XM_011545781.1:c.551G>T | XP_011544083.1:p.Ser184Ile | |
| XM_011545782.1:c.-24G>T | XP_011544084.1:n.-24G>T | |
| XM_005255233.5:c.-24G>T | XP_005255290.1:n.-24G>T | |
| XM_011545782.2:c.-24G>T | XP_011544084.1:n.-24G>T | |
| XM_024450221.1:c.548G>T | XP_024305989.1:p.Ser183Ile | |
| NM_004960.4:c.557G>T MANE Select | NP_004951.1:p.Ser186Ile |