Linked Data
dbSNP Id:
rs641120
gnomAD v2:
11-121380965-G-A
gnomAD v3:
11-121510256-G-A
gnomAD v4:
11-121510256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121510256G>A , CM000673.2:g.121510256G>A | GRCh38 |
| NC_000011.9:g.121380965G>A , CM000673.1:g.121380965G>A | GRCh37 |
| NC_000011.8:g.120886175G>A | NCBI36 |
| NG_023313.1:g.63005G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.940-2747G>A MANE Select | ENSP00000260197.6:n.940-2747G>A | |
| ENST00000260197.11:c.940-2747G>A | ENSP00000260197.6:n.940-2747G>A | |
| ENST00000532451.1:n.892-2747G>A | ||
| NM_003105.5:c.940-2747G>A | NP_003096.1:n.940-2747G>A | |
| XM_011542963.1:c.940-2747G>A | XP_011541265.1:n.940-2747G>A | |
| XM_011542964.1:c.940-2747G>A | XP_011541266.1:n.940-2747G>A | |
| XM_011542963.3:c.940-2747G>A | XP_011541265.1:n.940-2747G>A | |
| XM_011542965.3:c.-683-2747G>A | XP_011541267.1:n.-683-2747G>A | |
| XM_017018169.2:c.628-2747G>A | XP_016873658.1:n.628-2747G>A | |
| XM_017018170.2:c.415-2747G>A | XP_016873659.1:n.415-2747G>A | |
| XM_017018171.1:c.940-2747G>A | XP_016873660.1:n.940-2747G>A | |
| NM_003105.6:c.940-2747G>A MANE Select | NP_003096.2:n.940-2747G>A |