Linked Data
dbSNP Id:
rs200778983
gnomAD v2:
X-77378849-C-T
gnomAD v3:
X-78123352-C-T
gnomAD v4:
X-78123352-C-T
COSMIC:
COSM6385785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123352C>T , CM000685.2:g.78123352C>T | GRCh38 |
| NC_000023.10:g.77378849C>T , CM000685.1:g.77378849C>T | GRCh37 |
| NC_000023.9:g.77265505C>T | NCBI36 |
| NG_008862.1:g.24184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.914C>T MANE Select | ENSP00000362413.4:p.Ser305Phe | |
| ENST00000644362.1:c.830C>T | ENSP00000496140.1:p.Ser277Phe | |
| ENST00000373316.4:c.914C>T | ENSP00000362413.4:p.Ser305Phe | |
| NM_000291.3:c.914C>T | NP_000282.1:p.Ser305Phe | |
| NM_000291.4:c.914C>T MANE Select | NP_000282.1:p.Ser305Phe |