Linked Data
ClinVar Variation Id:
291960
ClinVar RCV Id:
RCV000281427
dbSNP Id:
rs533027827
gnomAD v2:
1-115248388-G-A
gnomAD v3:
1-114705767-G-A
gnomAD v4:
1-114705767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705767G>A , CM000663.2:g.114705767G>A | GRCh38 |
| NC_000001.10:g.115248388G>A , CM000663.1:g.115248388G>A | GRCh37 |
| NC_000001.9:g.115049911G>A | NCBI36 |
| NG_007572.1:g.16128C>T , LRG_92:g.16128C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*2327C>T MANE Select | ENSP00000358548.4:n.*2327C>T | |
| ENST00000369535.4:c.*2327C>T | ENSP00000358548.4:n.*2327C>T | |
| NM_002524.4:c.*2327C>T | NP_002515.1:n.*2327C>T | |
| NM_002524.5:c.*2327C>T MANE Select | NP_002515.1:n.*2327C>T |