Linked Data
ClinVar Variation Id:
1397994
dbSNP Id:
rs140590638
gnomAD v2:
5-177031440-G-T
gnomAD v4:
5-177604439-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604439G>T , CM000667.2:g.177604439G>T | GRCh38 |
| NC_000005.9:g.177031440G>T , CM000667.1:g.177031440G>T | GRCh37 |
| NC_000005.8:g.176964046G>T | NCBI36 |
| NG_015977.1:g.9322G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.311G>T MANE Select | ENSP00000029410.5:p.Arg104Leu | |
| ENST00000029410.9:c.311G>T | ENSP00000029410.5:p.Arg104Leu | |
| ENST00000502420.1:n.290G>T | ||
| ENST00000505433.5:c.311G>T | ENSP00000425591.1:p.Arg104Leu | |
| ENST00000505468.1:c.-32G>T | ENSP00000420886.1:n.-32G>T | |
| ENST00000507061.1:c.128G>T | ENSP00000423868.1:p.Arg43Leu | |
| ENST00000510761.1:c.-32G>T | ENSP00000423438.1:n.-32G>T | |
| NM_007255.2:c.311G>T | NP_009186.1:p.Arg104Leu | |
| XM_005265805.2:c.-32G>T | XP_005265862.1:n.-32G>T | |
| XM_006714816.2:c.-189G>T | XP_006714879.1:n.-189G>T | |
| XM_011534421.1:c.-32G>T | XP_011532723.1:n.-32G>T | |
| XM_006714816.4:c.-189G>T | XP_006714879.1:n.-189G>T | |
| XM_017008999.2:c.-32G>T | XP_016864488.1:n.-32G>T | |
| NM_007255.3:c.311G>T MANE Select | NP_009186.1:p.Arg104Leu |