Linked Data
ClinVar Variation Id:
734577
ClinVar RCV Id:
RCV000910016
dbSNP Id:
rs774628804
ExAC:
1:55337149 A / G
gnomAD v4:
1-54871476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54871476A>G , CM000663.2:g.54871476A>G | GRCh38 |
| NC_000001.10:g.55337149A>G , CM000663.1:g.55337149A>G | GRCh37 |
| NC_000001.9:g.55109737A>G | NCBI36 |
| NG_008839.1:g.20773T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.750T>C MANE Select | ENSP00000360316.3:p.Ala250= | |
| ENST00000436604.2:c.750T>C | ENSP00000416585.2:p.Ala250= | |
| ENST00000535035.6:c.750T>C | ENSP00000440191.3:p.Ala250= | |
| ENST00000647585.1:n.554T>C | ||
| ENST00000647912.1:c.*385T>C | ENSP00000497559.1:n.*385T>C | |
| ENST00000648712.1:n.868T>C | ||
| ENST00000648728.1:c.*405T>C | ENSP00000497084.1:n.*405T>C | |
| ENST00000649769.1:c.*405T>C | ENSP00000498012.1:n.*405T>C | |
| ENST00000371269.7:c.750T>C | ENSP00000360316.3:p.Ala250= | |
| ENST00000535035.5:c.483T>C | ENSP00000440191.2:p.Ala161= | |
| NM_014762.3:c.750T>C | NP_055577.1:p.Ala250= | |
| NM_014762.4:c.750T>C MANE Select | NP_055577.1:p.Ala250= |