Linked Data
dbSNP Id:
rs1300400728
gnomAD v2:
7-128589239-A-C
gnomAD v3:
7-128949185-A-C
gnomAD v4:
7-128949185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128949185A>C , CM000669.2:g.128949185A>C | GRCh38 |
| NC_000007.13:g.128589239A>C , CM000669.1:g.128589239A>C | GRCh37 |
| NC_000007.12:g.128376475A>C | NCBI36 |
| NG_012306.1:g.16246A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700148.1:n.2148A>C | ||
| ENST00000700151.1:n.4414A>C | ||
| ENST00000700152.1:n.3954A>C | ||
| ENST00000700153.1:n.3328A>C | ||
| ENST00000700154.1:n.1492A>C | ||
| ENST00000357234.10:c.*367A>C MANE Select | ENSP00000349770.5:n.*367A>C | |
| ENST00000489702.6:c.*367A>C | ENSP00000418037.2:n.*367A>C | |
| ENST00000249375.8:c.*367A>C | ENSP00000249375.4:n.*367A>C | |
| ENST00000402030.6:c.*367A>C | ENSP00000385352.2:n.*367A>C | |
| ENST00000465603.5:c.*1392A>C | ENSP00000418534.1:n.*1392A>C | |
| ENST00000473745.5:c.*367A>C | ENSP00000419149.1:n.*367A>C | |
| NM_001098627.3:c.*367A>C | NP_001092097.2:n.*367A>C | |
| NM_001098629.2:c.*367A>C | NP_001092099.1:n.*367A>C | |
| NM_001098630.2:c.*367A>C | NP_001092100.1:n.*367A>C | |
| NM_001242452.2:c.*367A>C | NP_001229381.1:n.*367A>C | |
| NM_032643.4:c.*367A>C | NP_116032.1:n.*367A>C | |
| XM_005250317.2:c.*367A>C | XP_005250374.1:n.*367A>C | |
| XM_006715974.2:c.*367A>C | XP_006716037.1:n.*367A>C | |
| XM_011516158.1:c.*367A>C | XP_011514460.1:n.*367A>C | |
| XM_011516159.1:c.*367A>C | XP_011514461.1:n.*367A>C | |
| XM_011516160.1:c.*367A>C | XP_011514462.1:n.*367A>C | |
| XM_011516161.1:c.*367A>C | XP_011514463.1:n.*367A>C | |
| XM_011516162.1:c.*367A>C | XP_011514464.1:n.*367A>C | |
| XM_011516163.1:c.*367A>C | XP_011514465.1:n.*367A>C | |
| XM_011516164.1:c.*367A>C | XP_011514466.1:n.*367A>C | |
| NM_001347928.1:c.*367A>C | NP_001334857.1:n.*367A>C | |
| NM_001364314.1:c.*367A>C | NP_001351243.1:n.*367A>C | |
| XM_011516158.3:c.*367A>C | XP_011514460.1:n.*367A>C | |
| XM_011516159.3:c.*367A>C | XP_011514461.1:n.*367A>C | |
| NM_001098629.3:c.*367A>C MANE Select | NP_001092099.1:n.*367A>C | |
| NM_001098630.3:c.*367A>C | NP_001092100.1:n.*367A>C | |
| NM_001242452.3:c.*367A>C | NP_001229381.1:n.*367A>C | |
| NM_001347928.2:c.*367A>C | NP_001334857.1:n.*367A>C | |
| NM_001364314.2:c.*367A>C | NP_001351243.1:n.*367A>C | |
| NM_001098627.4:c.*367A>C | NP_001092097.2:n.*367A>C | |
| NM_032643.5:c.*367A>C | NP_116032.1:n.*367A>C |