Linked Data
ClinVar Variation Id:
138009
ClinVar RCV Id:
RCV000155746
RCV000310463
RCV000270523
RCV000307327
RCV000242002
RCV000364999
RCV000389967
RCV000725213
dbSNP Id:
rs532941548
ExAC:
11:2466324 T / C
gnomAD v2:
11-2466324-T-C
gnomAD v3:
11-2445094-T-C
gnomAD v4:
11-2445094-T-C
PubMed:
PMID:12402336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445094T>C , CM000673.2:g.2445094T>C | GRCh38 |
| NC_000011.9:g.2466324T>C , CM000673.1:g.2466324T>C | GRCh37 |
| NC_000011.8:g.2422900T>C | NCBI36 |
| NG_008935.1:g.5104T>C , LRG_287:g.5104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-289T>C | ENSP00000434560.2:n.24-289T>C | |
| ENST00000646564.2:c.-5T>C | ENSP00000495806.2:n.-5T>C | |
| ENST00000155840.12:c.-5T>C MANE Select | ENSP00000155840.2:n.-5T>C | |
| ENST00000155840.9:c.-5T>C | ENSP00000155840.2:n.-5T>C | |
| ENST00000496887.6:c.24-289T>C | ENSP00000434560.1:n.24-289T>C | |
| NM_000218.2:c.-5T>C , LRG_287t1:c.-5T>C | NP_000209.2:n.-5T>C | |
| NM_000218.3:c.-5T>C MANE Select | NP_000209.2:n.-5T>C |