Linked Data
dbSNP Id:
rs3781838
gnomAD v2:
11-121453517-T-G
gnomAD v3:
11-121582808-T-G
gnomAD v4:
11-121582808-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121582808T>G , CM000673.2:g.121582808T>G | GRCh38 |
| NC_000011.9:g.121453517T>G , CM000673.1:g.121453517T>G | GRCh37 |
| NC_000011.8:g.120958727T>G | NCBI36 |
| NG_023313.1:g.135557T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.3581-650T>G MANE Select | ENSP00000260197.6:n.3581-650T>G | |
| ENST00000260197.11:c.3581-650T>G | ENSP00000260197.6:n.3581-650T>G | |
| ENST00000525532.5:c.413-650T>G | ENSP00000434634.1:n.413-650T>G | |
| ENST00000532694.5:c.119-650T>G | ENSP00000432131.1:n.119-650T>G | |
| ENST00000534286.5:c.311-650T>G | ENSP00000436447.1:n.311-650T>G | |
| NM_003105.5:c.3581-650T>G | NP_003096.1:n.3581-650T>G | |
| XM_011542963.1:c.3467-650T>G | XP_011541265.1:n.3467-650T>G | |
| XM_011542964.1:c.3581-650T>G | XP_011541266.1:n.3581-650T>G | |
| XM_011542965.1:c.2042-650T>G | XP_011541267.1:n.2042-650T>G | |
| XM_011542966.1:c.941-650T>G | XP_011541268.1:n.941-650T>G | |
| XM_011542967.1:c.413-650T>G | XP_011541269.1:n.413-650T>G | |
| XM_011542963.3:c.3467-650T>G | XP_011541265.1:n.3467-650T>G | |
| XM_011542965.3:c.2042-650T>G | XP_011541267.1:n.2042-650T>G | |
| XM_011542967.3:c.413-650T>G | XP_011541269.1:n.413-650T>G | |
| XM_017018169.2:c.3269-650T>G | XP_016873658.1:n.3269-650T>G | |
| XM_017018170.2:c.3056-650T>G | XP_016873659.1:n.3056-650T>G | |
| XM_017018171.1:c.3581-650T>G | XP_016873660.1:n.3581-650T>G | |
| XM_017018172.2:c.941-650T>G | XP_016873661.1:n.941-650T>G | |
| NM_003105.6:c.3581-650T>G MANE Select | NP_003096.2:n.3581-650T>G |