Linked Data
dbSNP Id:
rs762918908
ExAC:
4:158057962 T / C
gnomAD v2:
4-158057962-T-C
gnomAD v4:
4-157136810-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157136810T>C , CM000666.2:g.157136810T>C | GRCh38 |
| NC_000004.11:g.158057962T>C , CM000666.1:g.158057962T>C | GRCh37 |
| NC_000004.10:g.158277412T>C | NCBI36 |
| NG_015823.1:g.65686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.534T>C MANE Select | ENSP00000264428.4:p.Ser178= | |
| ENST00000264428.8:c.534T>C | ENSP00000264428.4:p.Ser178= | |
| ENST00000506411.5:c.*454T>C | ENSP00000422039.1:n.*454T>C | |
| ENST00000509282.1:c.534T>C | ENSP00000427186.1:p.Ser178= | |
| ENST00000510970.1:n.341T>C | ||
| ENST00000512619.5:c.123-33622T>C | ENSP00000425433.1:n.123-33622T>C | |
| ENST00000541722.5:c.534T>C | ENSP00000441873.1:p.Ser178= | |
| NM_000824.4:c.534T>C | NP_000815.1:p.Ser178= | |
| NM_001166060.1:c.534T>C | NP_001159532.1:p.Ser178= | |
| NM_001166061.1:c.534T>C | NP_001159533.1:p.Ser178= | |
| XM_011531876.1:c.240T>C | XP_011530178.1:p.Ser80= | |
| XM_017008034.1:c.240T>C | XP_016863523.1:p.Ser80= | |
| XM_017008035.2:c.534T>C | XP_016863524.1:p.Ser178= | |
| XR_001741207.2:n.715T>C | ||
| XR_002959723.1:n.715T>C | ||
| NM_000824.5:c.534T>C MANE Select | NP_000815.1:p.Ser178= | |
| NM_001166060.2:c.534T>C | NP_001159532.1:p.Ser178= | |
| NM_001166061.2:c.534T>C | NP_001159533.1:p.Ser178= |