Linked Data
dbSNP Id:
rs17824933
gnomAD v2:
11-60760612-C-G
gnomAD v3:
11-60993140-C-G
gnomAD v4:
11-60993140-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60993140C>G , CM000673.2:g.60993140C>G | GRCh38 |
| NC_000011.9:g.60760612C>G , CM000673.1:g.60760612C>G | GRCh37 |
| NC_000011.8:g.60517188C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313421.11:c.50-13434C>G MANE Select | ENSP00000323280.7:n.50-13434C>G | |
| ENST00000344931.9:c.50-13434C>G | ENSP00000340334.5:n.50-13434C>G | |
| ENST00000352009.9:c.50-13434C>G | ENSP00000340628.5:n.50-13434C>G | |
| ENST00000433107.6:c.50-13434C>G | ENSP00000410638.2:n.50-13434C>G | |
| ENST00000452451.6:c.50-13434C>G | ENSP00000390676.2:n.50-13434C>G | |
| ENST00000542157.5:c.50-13434C>G | ENSP00000440055.1:n.50-13434C>G | |
| ENST00000542254.5:c.*78+10370C>G | ENSP00000443748.1:n.*78+10370C>G | |
| ENST00000545105.5:n.178-13434C>G | ||
| NM_001254750.1:c.50-13434C>G | NP_001241679.1:n.50-13434C>G | |
| NM_001254751.1:c.50-13434C>G | NP_001241680.1:n.50-13434C>G | |
| NM_006725.4:c.50-13434C>G | NP_006716.3:n.50-13434C>G | |
| NR_045638.1:n.275-13434C>G | ||
| XM_006718738.1:c.50-13434C>G | XP_006718801.1:n.50-13434C>G | |
| XM_006718739.1:c.50-13434C>G | XP_006718802.1:n.50-13434C>G | |
| XM_006718740.1:c.50-13434C>G | XP_006718803.1:n.50-13434C>G | |
| XM_006718741.1:c.50-13434C>G | XP_006718804.1:n.50-13434C>G | |
| XM_011545360.1:c.50-13434C>G | XP_011543662.1:n.50-13434C>G | |
| XM_011545361.1:c.50-13434C>G | XP_011543663.1:n.50-13434C>G | |
| XM_011545362.1:c.50-13434C>G | XP_011543664.1:n.50-13434C>G | |
| XM_006718738.2:c.50-13434C>G | XP_006718801.1:n.50-13434C>G | |
| XM_006718739.2:c.50-13434C>G | XP_006718802.1:n.50-13434C>G | |
| XM_006718740.2:c.50-13434C>G | XP_006718803.1:n.50-13434C>G | |
| XM_006718741.2:c.50-13434C>G | XP_006718804.1:n.50-13434C>G | |
| XM_011545360.2:c.50-13434C>G | XP_011543662.1:n.50-13434C>G | |
| XM_011545362.2:c.50-13434C>G | XP_011543664.1:n.50-13434C>G | |
| NM_006725.5:c.50-13434C>G MANE Select | NP_006716.3:n.50-13434C>G | |
| NM_001254750.2:c.50-13434C>G | NP_001241679.1:n.50-13434C>G | |
| NM_001254751.2:c.50-13434C>G | NP_001241680.1:n.50-13434C>G | |
| NR_045638.2:n.236-13434C>G |