Linked Data
ClinVar Variation Id:
1516538
ClinVar RCV Id:
RCV002026674
dbSNP Id:
rs762478600
ExAC:
1:67519647 G / A
gnomAD v2:
1-67519647-G-A
gnomAD v4:
1-67053964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053964G>A , CM000663.2:g.67053964G>A | GRCh38 |
| NC_000001.10:g.67519647G>A , CM000663.1:g.67519647G>A | GRCh37 |
| NC_000001.9:g.67292235G>A | NCBI36 |
| NG_012933.1:g.5434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.50C>T MANE Select | ENSP00000235345.5:p.Pro17Leu | |
| ENST00000235345.5:c.50C>T | ENSP00000235345.5:p.Pro17Leu | |
| NM_015139.2:c.50C>T | NP_055954.1:p.Pro17Leu | |
| XM_006710478.1:c.50C>T | XP_006710541.1:p.Pro17Leu | |
| XM_011541070.1:c.50C>T | XP_011539372.1:p.Pro17Leu | |
| XM_006710478.2:c.50C>T | XP_006710541.1:p.Pro17Leu | |
| XM_011541070.2:c.50C>T | XP_011539372.1:p.Pro17Leu | |
| XR_001737057.2:n.460C>T | ||
| XR_001737058.2:n.453C>T | ||
| NM_015139.3:c.50C>T MANE Select | NP_055954.1:p.Pro17Leu |