Linked Data
ClinVar Variation Id:
1019905
ClinVar RCV Id:
RCV001319409
dbSNP Id:
rs1438844656
gnomAD v2:
2-233398715-G-A
gnomAD v3:
2-232534005-G-A
gnomAD v4:
2-232534005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534005G>A , CM000664.2:g.232534005G>A | GRCh38 |
| NC_000002.11:g.233398715G>A , CM000664.1:g.233398715G>A | GRCh37 |
| NC_000002.10:g.233106959G>A | NCBI36 |
| NG_008028.1:g.12794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1122G>A MANE Select | ENSP00000258385.3:p.Leu374= | |
| ENST00000258385.7:c.1122G>A | ENSP00000258385.3:p.Leu374= | |
| ENST00000441621.6:c.*304G>A | ENSP00000408819.2:n.*304G>A | |
| ENST00000446616.1:c.*763G>A | ENSP00000410801.1:n.*763G>A | |
| ENST00000543200.5:c.1077G>A | ENSP00000438380.1:p.Leu359= | |
| NM_000751.2:c.1122G>A | NP_000742.1:p.Leu374= | |
| NM_001256657.1:c.1077G>A | NP_001243586.1:p.Leu359= | |
| NM_001311195.1:c.540G>A | NP_001298124.1:p.Leu180= | |
| NM_001311196.1:c.819G>A | NP_001298125.1:p.Leu273= | |
| NR_046333.1:c.-4294966429G>A | ||
| NR_046334.1:c.-4294966150G>A | ||
| XM_011510524.1:c.741G>A | XP_011508826.1:p.Leu247= | |
| XM_011510524.2:c.741G>A | XP_011508826.1:p.Leu247= | |
| NM_000751.3:c.1122G>A MANE Select | NP_000742.1:p.Leu374= | |
| NM_001311195.2:c.540G>A | NP_001298124.1:p.Leu180= | |
| NM_001311196.2:c.819G>A | NP_001298125.1:p.Leu273= | |
| NM_001256657.2:c.1077G>A | NP_001243586.1:p.Leu359= |