Linked Data
ClinVar Variation Id:
297612
ClinVar RCV Id:
RCV000322714
dbSNP Id:
rs657688
gnomAD v2:
1-55315351-T-C
gnomAD v3:
1-54849678-T-C
gnomAD v4:
1-54849678-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54849678T>C , CM000663.2:g.54849678T>C | GRCh38 |
| NC_000001.10:g.55315351T>C , CM000663.1:g.55315351T>C | GRCh37 |
| NC_000001.9:g.55087939T>C | NCBI36 |
| NG_008839.1:g.42571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.*2555A>G MANE Select | ENSP00000360316.3:n.*2555A>G | |
| ENST00000535035.6:c.*2555A>G | ENSP00000440191.3:n.*2555A>G | |
| ENST00000647912.1:c.*3741A>G | ENSP00000497559.1:n.*3741A>G | |
| ENST00000648712.1:n.4224A>G | ||
| ENST00000649769.1:c.*4808A>G | ENSP00000498012.1:n.*4808A>G | |
| ENST00000371269.7:c.*2555A>G | ENSP00000360316.3:n.*2555A>G | |
| ENST00000535035.5:c.*2555A>G | ENSP00000440191.2:n.*2555A>G | |
| NM_014762.3:c.*2555A>G | NP_055577.1:n.*2555A>G | |
| NM_014762.4:c.*2555A>G MANE Select | NP_055577.1:n.*2555A>G |