Linked Data
dbSNP Id:
rs12155789
gnomAD v2:
8-22643707-A-G
gnomAD v3:
8-22786194-A-G
gnomAD v4:
8-22786194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22786194A>G , CM000670.2:g.22786194A>G | GRCh38 |
| NC_000008.10:g.22643707A>G , CM000670.1:g.22643707A>G | GRCh37 |
| NC_000008.9:g.22699652A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256404.8:c.357+31443T>C MANE Select | ENSP00000256404.6:n.357+31443T>C | |
| ENST00000256404.7:c.357+31443T>C | ENSP00000256404.6:n.357+31443T>C | |
| NM_144962.2:c.357+31443T>C | NP_659399.2:n.357+31443T>C | |
| XM_011544413.1:c.357+31443T>C | XP_011542715.1:n.357+31443T>C | |
| XM_011544414.1:c.357+31443T>C | XP_011542716.1:n.357+31443T>C | |
| NM_001363233.1:c.357+31443T>C | NP_001350162.1:n.357+31443T>C | |
| NM_144962.3:c.357+31443T>C MANE Select | NP_659399.2:n.357+31443T>C | |
| NM_001363233.2:c.357+31443T>C | NP_001350162.1:n.357+31443T>C |