Linked Data
dbSNP Id:
rs1540507
gnomAD v2:
8-3088763-C-T
gnomAD v3:
8-3231241-C-T
gnomAD v4:
8-3231241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.3231241C>T , CM000670.2:g.3231241C>T | GRCh38 |
| NC_000008.10:g.3088763C>T , CM000670.1:g.3088763C>T | GRCh37 |
| NC_000008.9:g.3076170C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635120.2:c.4154-1010G>A MANE Select | ENSP00000489225.1:n.4154-1010G>A | |
| ENST00000335551.11:c.2595-1010G>A | ||
| ENST00000400186.7:c.4157-1010G>A | ENSP00000383047.3:n.4157-1010G>A | |
| ENST00000520002.5:c.4157-1010G>A | ENSP00000430733.1:n.4157-1010G>A | |
| ENST00000523387.5:n.387-1010G>A | ||
| ENST00000523488.5:n.1687-1010G>A | ||
| ENST00000537824.2:c.3740-1010G>A | ENSP00000441462.2:n.3740-1010G>A | |
| ENST00000602557.5:c.4157-1010G>A | ENSP00000473359.1:n.4157-1010G>A | |
| ENST00000602723.5:c.4157-1010G>A | ENSP00000473617.1:n.4157-1010G>A | |
| ENST00000635120.1:c.4154-1010G>A | ENSP00000489225.1:n.4154-1010G>A | |
| NM_033225.5:c.4154-1010G>A | NP_150094.5:n.4154-1010G>A | |
| XM_011534752.1:c.4154-1010G>A | XP_011533054.1:n.4154-1010G>A | |
| XM_011534753.1:c.1247-1010G>A | XP_011533055.1:n.1247-1010G>A | |
| XM_011534754.1:c.176-1010G>A | XP_011533056.1:n.176-1010G>A | |
| XM_011534752.2:c.4154-1010G>A | XP_011533054.1:n.4154-1010G>A | |
| XM_011534753.3:c.1247-1010G>A | XP_011533055.1:n.1247-1010G>A | |
| XM_017013731.1:c.4154-1010G>A | XP_016869220.1:n.4154-1010G>A | |
| NM_033225.6:c.4154-1010G>A MANE Select | NP_150094.5:n.4154-1010G>A |