Linked Data
ClinVar Variation Id:
359693
ClinVar RCV Id:
RCV000406684
dbSNP Id:
rs187048874
ExAC:
7:21938942 C / T
gnomAD v2:
7-21938942-C-T
gnomAD v3:
7-21899324-C-T
gnomAD v4:
7-21899324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21899324C>T , CM000669.2:g.21899324C>T | GRCh38 |
| NC_000007.13:g.21938942C>T , CM000669.1:g.21938942C>T | GRCh37 |
| NC_000007.12:g.21905467C>T | NCBI36 |
| NG_012886.2:g.361110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.13050-12C>T MANE Select | ENSP00000475939.1:n.13050-12C>T | |
| ENST00000328843.10:c.13071-12C>T | ENSP00000330671.7:n.13071-12C>T | |
| ENST00000409508.7:c.13050-12C>T | ENSP00000475939.1:n.13050-12C>T | |
| ENST00000479878.1:n.421-12C>T | ||
| ENST00000620169.4:c.13071-12C>T | ENSP00000481693.1:n.13071-12C>T | |
| NM_001277115.1:c.13050-12C>T | NP_001264044.1:n.13050-12C>T | |
| NM_001277115.2:c.13050-12C>T MANE Select | NP_001264044.1:n.13050-12C>T |