Linked Data
ClinVar Variation Id:
18215
ClinVar RCV Id:
RCV000019875
dbSNP Id:
rs77656691
PubMed:
PMID:8347685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409474G>T , CM000666.2:g.73409474G>T | GRCh38 |
| NC_000004.11:g.74275191G>T , CM000666.1:g.74275191G>T | GRCh37 |
| NC_000004.10:g.74494055G>T | NCBI36 |
| NG_009291.1:g.10220G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.602G>T MANE Select | ENSP00000295897.4:p.Cys201Phe | |
| ENST00000295897.8:c.602G>T | ENSP00000295897.4:p.Cys201Phe | |
| ENST00000401494.7:c.257G>T | ENSP00000384695.3:p.Cys86Phe | |
| ENST00000415165.6:c.138-2522G>T | ENSP00000401820.2:n.138-2522G>T | |
| ENST00000476441.6:c.199G>T | ENSP00000423727.1:p.Ala67Ser | |
| ENST00000503124.5:c.152G>T | ENSP00000421027.1:p.Cys51Phe | |
| ENST00000505649.5:n.288G>T | ||
| ENST00000509063.5:c.602G>T | ENSP00000422784.1:p.Cys201Phe | |
| ENST00000511370.1:c.135G>T | ||
| ENST00000514786.1:n.571G>T | ||
| ENST00000621085.4:c.490+112G>T | ENSP00000483421.1:n.490+112G>T | |
| ENST00000621628.4:c.486+398G>T | ENSP00000480485.1:n.486+398G>T | |
| NM_000477.5:c.602G>T | NP_000468.1:p.Cys201Phe | |
| NM_000477.6:c.602G>T | NP_000468.1:p.Cys201Phe | |
| NM_000477.7:c.602G>T MANE Select | NP_000468.1:p.Cys201Phe |