Linked Data
dbSNP Id:
rs759840646
ExAC:
11:121367531 T / A
gnomAD v2:
11-121367531-T-A
gnomAD v3:
11-121496822-T-A
gnomAD v4:
11-121496822-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121496822T>A , CM000673.2:g.121496822T>A | GRCh38 |
| NC_000011.9:g.121367531T>A , CM000673.1:g.121367531T>A | GRCh37 |
| NC_000011.8:g.120872741T>A | NCBI36 |
| NG_023313.1:g.49571T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.759-47T>A MANE Select | ENSP00000260197.6:n.759-47T>A | |
| ENST00000260197.11:c.759-47T>A | ENSP00000260197.6:n.759-47T>A | |
| ENST00000532451.1:n.711-47T>A | ||
| NM_003105.5:c.759-47T>A | NP_003096.1:n.759-47T>A | |
| XM_011542963.1:c.759-47T>A | XP_011541265.1:n.759-47T>A | |
| XM_011542964.1:c.759-47T>A | XP_011541266.1:n.759-47T>A | |
| XM_011542963.3:c.759-47T>A | XP_011541265.1:n.759-47T>A | |
| XM_017018169.2:c.447-47T>A | XP_016873658.1:n.447-47T>A | |
| XM_017018170.2:c.234-47T>A | XP_016873659.1:n.234-47T>A | |
| XM_017018171.1:c.759-47T>A | XP_016873660.1:n.759-47T>A | |
| NM_003105.6:c.759-47T>A MANE Select | NP_003096.2:n.759-47T>A |