Linked Data
dbSNP Id:
rs1052912
gnomAD v2:
14-103603653-G-A
gnomAD v3:
14-103137316-G-A
gnomAD v4:
14-103137316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103137316G>A , CM000676.2:g.103137316G>A | GRCh38 |
| NC_000014.8:g.103603653G>A , CM000676.1:g.103603653G>A | GRCh37 |
| NC_000014.7:g.102673406G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333007.8:c.*1956G>A | ENSP00000332326.1:n.*1956G>A | |
| ENST00000560869.6:c.*1956G>A MANE Select | ENSP00000452634.2:n.*1956G>A | |
| ENST00000333007.5:c.*1956G>A | ENSP00000332326.1:n.*1956G>A | |
| ENST00000560869.5:c.*1956G>A | ENSP00000452634.1:n.*1956G>A | |
| ENST00000561217.1:n.487G>A | ||
| NM_006291.2:c.*1956G>A | NP_006282.2:n.*1956G>A | |
| XM_006720243.2:c.*1313G>A | XP_006720306.1:n.*1313G>A | |
| XM_011537112.1:c.*1313G>A | XP_011535414.1:n.*1313G>A | |
| XM_011537113.1:c.*1313G>A | XP_011535415.1:n.*1313G>A | |
| XM_011537114.1:c.*1956G>A | XP_011535416.1:n.*1956G>A | |
| XM_006720243.3:c.*1313G>A | XP_006720306.1:n.*1313G>A | |
| XM_011537112.2:c.*1313G>A | XP_011535414.1:n.*1313G>A | |
| XM_011537113.2:c.*1313G>A | XP_011535415.1:n.*1313G>A | |
| XM_011537114.2:c.*1956G>A | XP_011535416.1:n.*1956G>A | |
| XM_017021616.1:c.*1313G>A | XP_016877105.1:n.*1313G>A | |
| NM_006291.3:c.*1956G>A | NP_006282.2:n.*1956G>A | |
| NM_001371220.1:c.*1313G>A | NP_001358149.1:n.*1313G>A | |
| NM_001371221.1:c.*1313G>A | NP_001358150.1:n.*1313G>A | |
| NM_006291.4:c.*1956G>A MANE Select | NP_006282.2:n.*1956G>A |