Linked Data
ClinVar Variation Id:
870697
dbSNP Id:
rs151107837
ExAC:
5:125887738 G / A
gnomAD v2:
5-125887738-G-A
gnomAD v4:
5-126552046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552046G>A , CM000667.2:g.126552046G>A | GRCh38 |
| NC_000005.9:g.125887738G>A , CM000667.1:g.125887738G>A | GRCh37 |
| NC_000005.8:g.125915637G>A | NCBI36 |
| NG_008600.2:g.48345C>T | |
| NG_008600.3:g.48345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1292C>T MANE Select | ENSP00000387123.3:p.Pro431Leu | |
| ENST00000458249.6:c.*1201C>T | ENSP00000403929.1:n.*1201C>T | |
| ENST00000497231.7:n.1719C>T | ||
| ENST00000503281.6:c.881C>T | ||
| ENST00000635851.1:c.1290C>T | ||
| ENST00000636062.1:n.1187C>T | ||
| ENST00000636225.1:c.*1236C>T | ENSP00000490797.1:n.*1236C>T | |
| ENST00000636286.1:n.1010C>T | ||
| ENST00000636482.1:n.779C>T | ||
| ENST00000636743.1:c.1172C>T | ENSP00000489725.1:p.Pro391Leu | |
| ENST00000636808.1:c.*1101C>T | ENSP00000490833.1:n.*1101C>T | |
| ENST00000636872.1:c.1452C>T | ENSP00000490919.1:n.1452C>T | |
| ENST00000636879.1:c.1337C>T | ENSP00000490811.1:p.Pro446Leu | |
| ENST00000636886.1:c.1091C>T | ENSP00000490371.1:p.Pro364Leu | |
| ENST00000637206.1:c.1112C>T | ENSP00000489895.1:p.Pro371Leu | |
| ENST00000637272.1:c.1283C>T | ENSP00000489686.1:p.Pro428Leu | |
| ENST00000637292.1:c.774-1753C>T | ||
| ENST00000637782.1:c.1292C>T | ENSP00000490024.1:p.Pro431Leu | |
| ENST00000638008.1:c.*1136C>T | ENSP00000490400.1:n.*1136C>T | |
| ENST00000638010.1:n.1238C>T | ||
| ENST00000409134.7:c.1292C>T | ENSP00000387123.3:p.Pro431Leu | |
| ENST00000447989.6:c.1181C>T | ENSP00000414132.2:p.Pro394Leu | |
| ENST00000476328.1:n.57C>T | ||
| ENST00000497231.6:n.1502C>T | ||
| ENST00000503281.5:c.881C>T | ||
| ENST00000553117.5:c.1100C>T | ENSP00000448593.1:p.Pro367Leu | |
| NM_001182.4:c.1292C>T | NP_001173.2:p.Pro431Leu | |
| NM_001201377.1:c.1208C>T | NP_001188306.1:p.Pro403Leu | |
| NM_001202404.1:c.1181C>T | NP_001189333.1:p.Pro394Leu | |
| XM_011543417.1:c.887C>T | XP_011541719.1:p.Pro296Leu | |
| XM_011543417.2:c.887C>T | XP_011541719.1:p.Pro296Leu | |
| NM_001182.5:c.1292C>T MANE Select | NP_001173.2:p.Pro431Leu | |
| NM_001201377.2:c.1208C>T | NP_001188306.1:p.Pro403Leu | |
| NM_001202404.2:c.1100C>T | NP_001189333.2:p.Pro367Leu |