Linked Data
dbSNP Id:
rs12724393
gnomAD v2:
1-221896525-C-A
gnomAD v3:
1-221723183-C-A
gnomAD v4:
1-221723183-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.221723183C>A , CM000663.2:g.221723183C>A | GRCh38 |
| NC_000001.10:g.221896525C>A , CM000663.1:g.221896525C>A | GRCh37 |
| NC_000001.9:g.219963148C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366899.4:c.811+15751G>T MANE Select | ENSP00000355866.3:n.811+15751G>T | |
| ENST00000366899.3:c.811+15751G>T | ENSP00000355866.3:n.811+15751G>T | |
| ENST00000468085.5:c.-28+13660G>T | ENSP00000483812.1:n.-28+13660G>T | |
| ENST00000477026.5:c.-27-16717G>T | ENSP00000482935.1:n.-27-16717G>T | |
| NM_007207.5:c.811+15751G>T | NP_009138.1:n.811+15751G>T | |
| NR_111939.1:n.58+13660G>T | ||
| NR_111940.1:n.197-16717G>T | ||
| NM_007207.6:c.811+15751G>T MANE Select | NP_009138.1:n.811+15751G>T | |
| NR_111939.2:n.58+13660G>T | ||
| NR_111940.2:n.110-16717G>T |