Linked Data
ClinVar Variation Id:
257842
ClinVar RCV Id:
RCV000242744
dbSNP Id:
rs886038455
gnomAD v2:
7-21582850-C-T
gnomAD v4:
7-21543232-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543232C>T , CM000669.2:g.21543232C>T | GRCh38 |
| NC_000007.13:g.21582850C>T , CM000669.1:g.21582850C>T | GRCh37 |
| NC_000007.12:g.21549375C>T | NCBI36 |
| NG_012886.2:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.-14C>T MANE Select | ENSP00000475939.1:n.-14C>T | |
| ENST00000328843.10:c.-14C>T | ENSP00000330671.7:n.-14C>T | |
| ENST00000409508.7:c.-14C>T | ENSP00000475939.1:n.-14C>T | |
| ENST00000620169.4:c.-14C>T | ENSP00000481693.1:n.-14C>T | |
| NM_001277115.1:c.-14C>T | NP_001264044.1:n.-14C>T | |
| NM_001277115.2:c.-14C>T MANE Select | NP_001264044.1:n.-14C>T |