Linked Data
ClinVar Variation Id:
291956
ClinVar RCV Id:
RCV000388618
dbSNP Id:
rs778203603
gnomAD v2:
1-115248169-G-A
gnomAD v3:
1-114705548-G-A
gnomAD v4:
1-114705548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705548G>A , CM000663.2:g.114705548G>A | GRCh38 |
| NC_000001.10:g.115248169G>A , CM000663.1:g.115248169G>A | GRCh37 |
| NC_000001.9:g.115049692G>A | NCBI36 |
| NG_007572.1:g.16347C>T , LRG_92:g.16347C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*2546C>T MANE Select | ENSP00000358548.4:n.*2546C>T | |
| ENST00000369535.4:c.*2546C>T | ENSP00000358548.4:n.*2546C>T | |
| NM_002524.4:c.*2546C>T | NP_002515.1:n.*2546C>T | |
| NM_002524.5:c.*2546C>T MANE Select | NP_002515.1:n.*2546C>T |