Linked Data
ClinVar Variation Id:
1133491
ClinVar RCV Id:
RCV001468116
dbSNP Id:
rs576022241
ExAC:
19:7592459 C / T
gnomAD v2:
19-7592459-C-T
gnomAD v3:
19-7527573-C-T
gnomAD v4:
19-7527573-C-T
COSMIC:
COSM2728871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527573C>T , CM000681.2:g.7527573C>T | GRCh38 |
| NC_000019.9:g.7592459C>T , CM000681.1:g.7592459C>T | GRCh37 |
| NC_000019.8:g.7498459C>T | NCBI36 |
| NG_015806.1:g.9964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.625C>T MANE Select | ENSP00000264079.5:p.Leu209Phe | |
| ENST00000264079.10:c.625C>T | ENSP00000264079.5:p.Leu209Phe | |
| ENST00000394321.9:n.705C>T | ||
| ENST00000598406.1:n.446C>T | ||
| ENST00000601003.1:c.572-291C>T | ENSP00000469074.1:n.572-291C>T | |
| NM_020533.2:c.625C>T | NP_065394.1:p.Leu209Phe | |
| NM_020533.3:c.625C>T MANE Select | NP_065394.1:p.Leu209Phe |