Linked Data
ClinVar Variation Id:
1941854
ClinVar RCV Id:
RCV002643347
dbSNP Id:
rs534125512
gnomAD v4:
1-54854061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54854061C>T , CM000663.2:g.54854061C>T | GRCh38 |
| NC_000001.10:g.55319734C>T , CM000663.1:g.55319734C>T | GRCh37 |
| NC_000001.9:g.55092322C>T | NCBI36 |
| NG_008839.1:g.38188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.1194G>A MANE Select | ENSP00000360316.3:p.Leu398= | |
| ENST00000436604.2:c.1194G>A | ENSP00000416585.2:p.Leu398= | |
| ENST00000535035.6:c.1230G>A | ENSP00000440191.3:p.Leu410= | |
| ENST00000647585.1:n.998G>A | ||
| ENST00000647912.1:c.*829G>A | ENSP00000497559.1:n.*829G>A | |
| ENST00000648712.1:n.1312G>A | ||
| ENST00000648728.1:c.*849G>A | ENSP00000497084.1:n.*849G>A | |
| ENST00000649769.1:c.*849G>A | ENSP00000498012.1:n.*849G>A | |
| ENST00000371269.7:c.1194G>A | ENSP00000360316.3:p.Leu398= | |
| ENST00000436604.1:c.106G>A | ||
| ENST00000535035.5:c.927G>A | ENSP00000440191.2:p.Leu309= | |
| NM_014762.3:c.1194G>A | NP_055577.1:p.Leu398= | |
| NM_014762.4:c.1194G>A MANE Select | NP_055577.1:p.Leu398= |