Linked Data
dbSNP Id:
rs759513775
ExAC:
4:88533509 T / C
gnomAD v2:
4-88533509-T-C
gnomAD v4:
4-87612357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612357T>C , CM000666.2:g.87612357T>C | GRCh38 |
| NC_000004.11:g.88533509T>C , CM000666.1:g.88533509T>C | GRCh37 |
| NC_000004.10:g.88752533T>C | NCBI36 |
| NG_011595.1:g.8829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.171T>C MANE Select | ENSP00000498766.1:p.Ser57= | |
| ENST00000282478.7:c.171T>C | ENSP00000282478.7:p.Ser57= | |
| ENST00000399271.5:c.171T>C | ENSP00000382213.1:p.Ser57= | |
| NM_014208.3:c.171T>C MANE Select | NP_055023.2:p.Ser57= |