Linked Data
ClinVar Variation Id:
1962448
ClinVar RCV Id:
RCV002735106
dbSNP Id:
rs759101140
gnomAD v3:
6-42173779-G-T
gnomAD v4:
6-42173779-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42173779G>T , CM000668.2:g.42173779G>T | GRCh38 |
| NC_000006.11:g.42141517G>T , CM000668.1:g.42141517G>T | GRCh37 |
| NC_000006.10:g.42249495G>T | NCBI36 |
| NG_009938.1:g.23374G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703265.1:c.*401G>T (GUCA1ANB-GUCA1A) | ENSP00000515250.1:n.*401G>T | |
| ENST00000703266.1:c.*401G>T (GUCA1ANB-GUCA1A) | ENSP00000515251.1:n.*401G>T | |
| ENST00000703267.1:c.*664G>T (GUCA1ANB-GUCA1A) | ENSP00000515252.1:n.*664G>T | |
| ENST00000372958.2:c.166G>T (GUCA1A) MANE Select | ENSP00000362049.1:p.Val56Leu | |
| ENST00000394237.6:c.*664G>T (CIMIP3) | ENSP00000377784.2:n.*664G>T | |
| ENST00000418175.6:c.*401G>T (CIMIP3) | ENSP00000388438.2:n.*401G>T | |
| ENST00000654459.1:c.166G>T (GUCA1A) | ENSP00000499539.1:p.Val56Leu | |
| ENST00000659095.1:c.*401G>T (CIMIP3) | ENSP00000499714.1:n.*401G>T | |
| ENST00000053469.8:c.166G>T (GUCA1A) | ENSP00000053469.4:p.Val56Leu | |
| ENST00000372958.1:c.166G>T (GUCA1A) | ENSP00000362049.1:p.Val56Leu | |
| ENST00000394237.5:c.166G>T (GUCA1A) | ENSP00000377784.1:p.Val56Leu | |
| ENST00000418175.5:c.166G>T (GUCA1A) | ENSP00000388438.1:p.Val56Leu | |
| ENST00000541991.5:c.154G>T (GUCA1A) | ENSP00000437476.2:p.Val52Leu | |
| NM_000409.3:c.166G>T (GUCA1A) | NP_000400.2:p.Val56Leu | |
| XM_006715073.2:c.-117G>T (GUCA1A) | XP_006715136.1:n.-117G>T | |
| XM_011514536.1:c.166G>T (GUCA1A) | XP_011512838.1:p.Val56Leu | |
| XM_011514537.1:c.166G>T (GUCA1A) | XP_011512839.1:p.Val56Leu | |
| XM_011514538.1:c.166G>T (GUCA1A) | XP_011512840.1:p.Val56Leu | |
| XM_011514539.1:c.166G>T (GUCA1A) | XP_011512841.1:p.Val56Leu | |
| NM_000409.4:c.166G>T (GUCA1A) | NP_000400.2:p.Val56Leu | |
| NM_001319061.1:c.166G>T (GUCA1A) | NP_001305990.1:p.Val56Leu | |
| NM_001319062.1:c.166G>T (GUCA1A) | NP_001305991.1:p.Val56Leu | |
| XM_011514537.2:c.166G>T (GUCA1A) | XP_011512839.1:p.Val56Leu | |
| NM_000409.5:c.166G>T (GUCA1A) | NP_000400.2:p.Val56Leu | |
| NM_001319061.2:c.166G>T (GUCA1A) | NP_001305990.1:p.Val56Leu | |
| NM_001319062.2:c.166G>T (GUCA1A) | NP_001305991.1:p.Val56Leu | |
| NM_001384910.1:c.166G>T (GUCA1A) MANE Select | NP_001371839.1:p.Val56Leu |