Linked Data
ClinVar Variation Id:
322525
ClinVar RCV Id:
RCV000366749
dbSNP Id:
rs200363238
gnomAD v3:
17-30198049-C-T
gnomAD v4:
17-30198049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30198049C>T , CM000679.2:g.30198049C>T | GRCh38 |
| NC_000017.10:g.28525067C>T , CM000679.1:g.28525067C>T | GRCh37 |
| NC_000017.9:g.25549193C>T | NCBI36 |
| NG_011747.2:g.42888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.*407G>A MANE Select | ENSP00000498537.1:n.*407G>A | |
| ENST00000261707.7:c.*407G>A | ENSP00000261707.3:n.*407G>A | |
| ENST00000401766.6:c.*407G>A | ENSP00000385822.2:n.*407G>A | |
| ENST00000579221.5:c.941G>A | ||
| NM_001045.5:c.*407G>A | NP_001036.1:n.*407G>A | |
| NM_001045.6:c.*407G>A MANE Select | NP_001036.1:n.*407G>A |