Linked Data
ClinVar Variation Id:
297613
ClinVar RCV Id:
RCV000377396
dbSNP Id:
rs144220338
gnomAD v2:
1-55315352-G-A
gnomAD v3:
1-54849679-G-A
gnomAD v4:
1-54849679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54849679G>A , CM000663.2:g.54849679G>A | GRCh38 |
| NC_000001.10:g.55315352G>A , CM000663.1:g.55315352G>A | GRCh37 |
| NC_000001.9:g.55087940G>A | NCBI36 |
| NG_008839.1:g.42570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.*2554C>T MANE Select | ENSP00000360316.3:n.*2554C>T | |
| ENST00000535035.6:c.*2554C>T | ENSP00000440191.3:n.*2554C>T | |
| ENST00000647912.1:c.*3740C>T | ENSP00000497559.1:n.*3740C>T | |
| ENST00000648712.1:n.4223C>T | ||
| ENST00000649769.1:c.*4807C>T | ENSP00000498012.1:n.*4807C>T | |
| ENST00000371269.7:c.*2554C>T | ENSP00000360316.3:n.*2554C>T | |
| ENST00000535035.5:c.*2554C>T | ENSP00000440191.2:n.*2554C>T | |
| NM_014762.3:c.*2554C>T | NP_055577.1:n.*2554C>T | |
| NM_014762.4:c.*2554C>T MANE Select | NP_055577.1:n.*2554C>T |