Linked Data
dbSNP Id:
rs933845972
gnomAD v2:
11-121356969-G-T
gnomAD v3:
11-121486260-G-T
gnomAD v4:
11-121486260-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121486260G>T , CM000673.2:g.121486260G>T | GRCh38 |
| NC_000011.9:g.121356969G>T , CM000673.1:g.121356969G>T | GRCh37 |
| NC_000011.8:g.120862179G>T | NCBI36 |
| NG_023313.1:g.39009G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.529-1772G>T MANE Select | ENSP00000260197.6:n.529-1772G>T | |
| ENST00000260197.11:c.529-1772G>T | ENSP00000260197.6:n.529-1772G>T | |
| ENST00000532451.1:n.481-1772G>T | ||
| NM_003105.5:c.529-1772G>T | NP_003096.1:n.529-1772G>T | |
| XM_011542963.1:c.529-1772G>T | XP_011541265.1:n.529-1772G>T | |
| XM_011542964.1:c.529-1772G>T | XP_011541266.1:n.529-1772G>T | |
| XM_011542963.3:c.529-1772G>T | XP_011541265.1:n.529-1772G>T | |
| XM_017018169.2:c.217-1772G>T | XP_016873658.1:n.217-1772G>T | |
| XM_017018171.1:c.529-1772G>T | XP_016873660.1:n.529-1772G>T | |
| NM_003105.6:c.529-1772G>T MANE Select | NP_003096.2:n.529-1772G>T |