Linked Data
dbSNP Id:
rs6303
ExAC:
6:87725837 C / T
gnomAD v2:
6-87725837-C-T
gnomAD v3:
6-87016119-C-T
gnomAD v4:
6-87016119-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87016119C>T , CM000668.2:g.87016119C>T | GRCh38 |
| NC_000006.11:g.87725837C>T , CM000668.1:g.87725837C>T | GRCh37 |
| NC_000006.10:g.87782556C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305344.7:c.785C>T MANE Select | ENSP00000307766.4:p.Ser262Phe | |
| ENST00000305344.6:c.785C>T | ENSP00000307766.4:p.Ser262Phe | |
| NM_000865.2:c.785C>T | NP_000856.1:p.Ser262Phe | |
| XM_011535789.1:c.785C>T | XP_011534091.1:p.Ser262Phe | |
| XM_011535790.1:c.785C>T | XP_011534092.1:p.Ser262Phe | |
| XM_011535789.2:c.785C>T | XP_011534091.1:p.Ser262Phe | |
| NM_000865.3:c.785C>T MANE Select | NP_000856.1:p.Ser262Phe |