Linked Data
ClinVar Variation Id:
217230
dbSNP Id:
rs863225022
gnomAD v2:
7-75933161-G-T
gnomAD v4:
7-76303844-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303844G>T , CM000669.2:g.76303844G>T | GRCh38 |
| NC_000007.13:g.75933161G>T , CM000669.1:g.75933161G>T | GRCh37 |
| NC_000007.12:g.75771097G>T | NCBI36 |
| NG_008995.1:g.6287G>T , LRG_248:g.6287G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.407G>T MANE Select | ENSP00000248553.6:p.Arg136Leu | |
| ENST00000674547.1:c.407G>T | ENSP00000502461.1:p.Arg136Leu | |
| ENST00000674638.1:c.402G>T | ENSP00000502651.1:p.Pro134= | |
| ENST00000674650.1:c.365-140G>T | ENSP00000501628.1:n.365-140G>T | |
| ENST00000674965.1:c.*63G>T | ENSP00000501765.1:n.*63G>T | |
| ENST00000675134.1:c.407G>T | ENSP00000501831.1:p.Arg136Leu | |
| ENST00000675226.1:c.406G>T | ENSP00000502510.1:p.Gly136Cys | |
| ENST00000675417.1:n.640G>T | ||
| ENST00000675538.1:c.442G>T | ENSP00000502495.1:p.Gly148Cys | |
| ENST00000675906.1:c.407G>T | ENSP00000502714.1:p.Arg136Leu | |
| ENST00000676195.1:n.123G>T | ||
| ENST00000676231.1:c.437G>T | ENSP00000502249.1:p.Arg146Leu | |
| ENST00000248553.6:c.407G>T | ENSP00000248553.6:p.Arg136Leu | |
| ENST00000429938.1:c.-98G>T | ENSP00000405285.1:n.-98G>T | |
| ENST00000447574.1:c.*571G>T | ENSP00000414357.1:n.*571G>T | |
| NM_001540.3:c.407G>T , LRG_248t1:c.407G>T | NP_001531.1:p.Arg136Leu | |
| NM_001540.4:c.407G>T | NP_001531.1:p.Arg136Leu | |
| NM_001540.5:c.407G>T MANE Select | NP_001531.1:p.Arg136Leu |