Linked Data
ClinVar Variation Id:
360040
ClinVar RCV Id:
RCV000327183
dbSNP Id:
rs886062276
gnomAD v3:
7-30979442-C-A
gnomAD v4:
7-30979442-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30979442C>A , CM000669.2:g.30979442C>A | GRCh38 |
| NC_000007.13:g.31019057C>A , CM000669.1:g.31019057C>A | GRCh37 |
| NC_000007.12:g.30985582C>A | NCBI36 |
| NG_021416.1:g.20422C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326139.7:c.*198C>A MANE Select | ENSP00000320180.2:n.*198C>A | |
| ENST00000326139.6:c.*198C>A | ENSP00000320180.2:n.*198C>A | |
| ENST00000337750.9:c.*686C>A | ENSP00000338184.4:n.*686C>A | |
| ENST00000396227.6:c.*686C>A | ENSP00000379529.2:n.*686C>A | |
| ENST00000409316.5:c.*313C>A | ENSP00000386602.1:n.*313C>A | |
| ENST00000409904.7:c.*198C>A | ENSP00000387113.3:n.*198C>A | |
| ENST00000461424.5:n.680+2884C>A | ||
| ENST00000463164.1:n.454C>A | ||
| ENST00000611037.1:c.550+2884C>A | ENSP00000480159.1:n.550+2884C>A | |
| NM_000823.3:c.*198C>A | NP_000814.2:n.*198C>A | |
| XM_011515263.1:c.*198C>A | XP_011513565.1:n.*198C>A | |
| NM_000823.4:c.*198C>A MANE Select | NP_000814.2:n.*198C>A |