Linked Data
ClinVar Variation Id:
297616
ClinVar RCV Id:
RCV000383251
dbSNP Id:
rs115017311
gnomAD v2:
1-55315464-C-A
gnomAD v3:
1-54849791-C-A
gnomAD v4:
1-54849791-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54849791C>A , CM000663.2:g.54849791C>A | GRCh38 |
| NC_000001.10:g.55315464C>A , CM000663.1:g.55315464C>A | GRCh37 |
| NC_000001.9:g.55088052C>A | NCBI36 |
| NG_008839.1:g.42458G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.*2442G>T MANE Select | ENSP00000360316.3:n.*2442G>T | |
| ENST00000535035.6:c.*2442G>T | ENSP00000440191.3:n.*2442G>T | |
| ENST00000647912.1:c.*3628G>T | ENSP00000497559.1:n.*3628G>T | |
| ENST00000648712.1:n.4111G>T | ||
| ENST00000649769.1:c.*4695G>T | ENSP00000498012.1:n.*4695G>T | |
| ENST00000371269.7:c.*2442G>T | ENSP00000360316.3:n.*2442G>T | |
| ENST00000535035.5:c.*2442G>T | ENSP00000440191.2:n.*2442G>T | |
| NM_014762.3:c.*2442G>T | NP_055577.1:n.*2442G>T | |
| NM_014762.4:c.*2442G>T MANE Select | NP_055577.1:n.*2442G>T |