Linked Data
ClinVar Variation Id:
12334
ClinVar RCV Id:
RCV000013127
dbSNP Id:
rs121917765
gnomAD v4:
11-2166544-C-A
PubMed:
PMID:10585338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166544C>A , CM000673.2:g.2166544C>A | GRCh38 |
| NC_000011.9:g.2187774C>A , CM000673.1:g.2187774C>A | GRCh37 |
| NC_000011.8:g.2144350C>A | NCBI36 |
| NG_008128.1:g.10262G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.983G>T MANE Select | ENSP00000325951.4:p.Cys328Phe | |
| ENST00000324155.8:c.*672G>T | ENSP00000325831.3:n.*672G>T | |
| ENST00000333684.9:c.701G>T | ENSP00000328814.6:p.Cys234Phe | |
| ENST00000352909.7:c.983G>T | ENSP00000325951.3:p.Cys328Phe | |
| ENST00000381168.7:c.*703G>T | ENSP00000370560.3:n.*703G>T | |
| ENST00000381175.5:c.1064G>T | ENSP00000370567.1:p.Cys355Phe | |
| ENST00000381178.5:c.1076G>T | ENSP00000370571.1:p.Cys359Phe | |
| ENST00000412076.1:c.141G>T | ||
| ENST00000416223.5:c.277G>T | ||
| ENST00000461172.1:n.148G>T | ||
| ENST00000479437.5:n.532G>T | ||
| NM_000360.3:c.983G>T | NP_000351.2:p.Cys328Phe | |
| NM_199292.2:c.1076G>T | NP_954986.2:p.Cys359Phe | |
| NM_199293.2:c.1064G>T | NP_954987.2:p.Cys355Phe | |
| XM_011520335.1:c.995G>T | XP_011518637.1:p.Cys332Phe | |
| XM_011520335.2:c.995G>T | XP_011518637.1:p.Cys332Phe | |
| NM_000360.4:c.983G>T MANE Select | NP_000351.2:p.Cys328Phe | |
| NM_199292.3:c.1076G>T | NP_954986.2:p.Cys359Phe | |
| NM_199293.3:c.1064G>T | NP_954987.2:p.Cys355Phe |