Linked Data
ClinVar Variation Id:
312533
ClinVar RCV Id:
RCV000313712
dbSNP Id:
rs188450235
gnomAD v2:
13-93879573-C-T
gnomAD v3:
13-93227320-C-T
gnomAD v4:
13-93227320-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93227320C>T , CM000675.2:g.93227320C>T | GRCh38 |
| NC_000013.10:g.93879573C>T , CM000675.1:g.93879573C>T | GRCh37 |
| NC_000013.9:g.92677574C>T | NCBI36 |
| NG_011880.1:g.5496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.-137C>T MANE Select | ENSP00000366246.3:n.-137C>T | |
| ENST00000377047.8:c.-137C>T | ENSP00000366246.3:n.-137C>T | |
| NM_005708.3:c.-137C>T | NP_005699.1:n.-137C>T | |
| NM_005708.4:c.-137C>T | NP_005699.1:n.-137C>T | |
| NM_005708.5:c.-137C>T MANE Select | NP_005699.1:n.-137C>T |