Linked Data
ClinVar Variation Id:
10210
ClinVar RCV Id:
RCV000010923
dbSNP Id:
rs28933672
gnomAD v4:
X-154966120-C-A
PubMed:
PMID:1924291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966120C>A , CM000685.2:g.154966120C>A | GRCh38 |
| NC_000023.10:g.154194395C>A , CM000685.1:g.154194395C>A | GRCh37 |
| NC_000023.9:g.153847589C>A | NCBI36 |
| NG_011403.1:g.61604G>T | |
| NG_011403.2:g.61604G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1293G>T MANE Select | ENSP00000353393.4:p.Leu431Phe | |
| ENST00000647125.1:c.*1169G>T | ENSP00000496062.1:n.*1169G>T | |
| ENST00000360256.8:c.1293G>T | ENSP00000353393.4:p.Leu431Phe | |
| ENST00000483822.2:n.113G>T | ||
| NM_000132.3:c.1293G>T | NP_000123.1:p.Leu431Phe | |
| XM_011531126.1:c.1188G>T | XP_011529428.1:p.Leu396Phe | |
| NM_000132.4:c.1293G>T MANE Select | NP_000123.1:p.Leu431Phe |