Linked Data
ClinVar Variation Id:
2991
dbSNP Id:
rs120074125
gnomAD v2:
11-6414531-T-G
gnomAD v4:
11-6393301-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393301T>G , CM000673.2:g.6393301T>G | GRCh38 |
| NC_000011.9:g.6414531T>G , CM000673.1:g.6414531T>G | GRCh37 |
| NC_000011.8:g.6371107T>G | NCBI36 |
| NG_011780.1:g.7877T>G | |
| NG_029615.1:g.31114A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1177T>G MANE Select | ENSP00000340409.4:p.Trp393Gly | |
| ENST00000342245.8:c.1177T>G | ENSP00000340409.4:p.Trp393Gly | |
| ENST00000526280.1:c.321-316T>G | ||
| ENST00000527275.5:c.1174T>G | ENSP00000435350.1:p.Trp392Gly | |
| ENST00000531303.5:c.*8T>G | ENSP00000432625.1:n.*8T>G | |
| ENST00000531336.1:n.9T>G | ||
| ENST00000533123.5:c.1092-316T>G | ENSP00000435950.1:n.1092-316T>G | |
| ENST00000534405.5:c.*8T>G | ENSP00000434353.1:n.*8T>G | |
| NM_000543.4:c.1177T>G | NP_000534.3:p.Trp393Gly | |
| NM_001007593.2:c.1174T>G | NP_001007594.2:p.Trp392Gly | |
| XM_005253075.3:c.1177T>G | XP_005253132.1:p.Trp393Gly | |
| XM_011520303.1:c.1132-316T>G | XP_011518605.1:n.1132-316T>G | |
| XM_011520304.1:c.1132-316T>G | XP_011518606.1:n.1132-316T>G | |
| XR_930886.1:n.1515T>G | ||
| NM_001318087.1:c.1177T>G | NP_001305016.1:p.Trp393Gly | |
| NM_001318088.1:c.256T>G | NP_001305017.1:p.Trp86Gly | |
| NM_001365135.1:c.1132-316T>G | NP_001352064.1:n.1132-316T>G | |
| NR_027400.2:n.1277-316T>G | ||
| NR_134502.1:n.709T>G | ||
| XM_011520304.2:c.1132-316T>G | XP_011518606.1:n.1132-316T>G | |
| XR_001747940.2:n.1342T>G | ||
| XR_002957158.1:n.1342T>G | ||
| NM_000543.5:c.1177T>G MANE Select | NP_000534.3:p.Trp393Gly | |
| NM_001007593.3:c.1174T>G | NP_001007594.2:p.Trp392Gly | |
| NM_001318087.2:c.1177T>G | NP_001305016.1:p.Trp393Gly | |
| NM_001318088.2:c.256T>G | NP_001305017.1:p.Trp86Gly | |
| NM_001365135.2:c.1132-316T>G | NP_001352064.1:n.1132-316T>G | |
| NR_027400.3:n.1217-316T>G | ||
| NR_134502.2:n.649T>G |