Linked Data
dbSNP Id:
rs7762152
gnomAD v2:
6-42139825-A-G
gnomAD v3:
6-42172087-A-G
gnomAD v4:
6-42172087-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42172087A>G , CM000668.2:g.42172087A>G | GRCh38 |
| NC_000006.11:g.42139825A>G , CM000668.1:g.42139825A>G | GRCh37 |
| NC_000006.10:g.42247803A>G | NCBI36 |
| NG_009938.1:g.21682A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703265.1:c.186-1246A>G (GUCA1ANB-GUCA1A) | ENSP00000515250.1:n.186-1246A>G | |
| ENST00000703266.1:c.231-1246A>G (GUCA1ANB-GUCA1A) | ENSP00000515251.1:n.231-1246A>G | |
| ENST00000703267.1:c.*218-1246A>G (GUCA1ANB-GUCA1A) | ENSP00000515252.1:n.*218-1246A>G | |
| ENST00000394237.6:c.*218-1246A>G (CIMIP3) | ENSP00000377784.2:n.*218-1246A>G | |
| ENST00000418175.6:c.186-1246A>G (CIMIP3) | ENSP00000388438.2:n.186-1246A>G | |
| ENST00000654459.1:c.-281-1246A>G (GUCA1A) | ENSP00000499539.1:n.-281-1246A>G | |
| ENST00000659095.1:c.231-1246A>G (CIMIP3) | ENSP00000499714.1:n.231-1246A>G | |
| ENST00000053469.8:c.-281-1246A>G (GUCA1A) | ENSP00000053469.4:n.-281-1246A>G | |
| ENST00000394237.5:c.-281-1246A>G (GUCA1A) | ENSP00000377784.1:n.-281-1246A>G | |
| ENST00000418175.5:c.-281-1246A>G (GUCA1A) | ENSP00000388438.1:n.-281-1246A>G | |
| ENST00000541991.5:c.-293-1246A>G (GUCA1A) | ENSP00000437476.2:n.-293-1246A>G | |
| NM_000409.3:c.-281-1246A>G (GUCA1A) | NP_000400.2:n.-281-1246A>G | |
| XM_011514536.1:c.-281-1246A>G (GUCA1A) | XP_011512838.1:n.-281-1246A>G | |
| XM_011514537.1:c.-281-1246A>G (GUCA1A) | XP_011512839.1:n.-281-1246A>G | |
| XM_011514538.1:c.-281-1246A>G (GUCA1A) | XP_011512840.1:n.-281-1246A>G | |
| XM_011514539.1:c.-281-1246A>G (GUCA1A) | XP_011512841.1:n.-281-1246A>G | |
| NM_000409.4:c.-281-1246A>G (GUCA1A) | NP_000400.2:n.-281-1246A>G | |
| NM_001319061.1:c.-281-1246A>G (GUCA1A) | NP_001305990.1:n.-281-1246A>G | |
| NM_001319062.1:c.-281-1246A>G (GUCA1A) | NP_001305991.1:n.-281-1246A>G | |
| XM_011514537.2:c.-281-1246A>G (GUCA1A) | XP_011512839.1:n.-281-1246A>G | |
| NM_000409.5:c.-281-1246A>G (GUCA1A) | NP_000400.2:n.-281-1246A>G | |
| NM_001319061.2:c.-281-1246A>G (GUCA1A) | NP_001305990.1:n.-281-1246A>G | |
| NM_001319062.2:c.-281-1246A>G (GUCA1A) | NP_001305991.1:n.-281-1246A>G |