Linked Data
dbSNP Id:
rs2723279
gnomAD v2:
12-118272871-C-A
gnomAD v3:
12-117835066-C-A
gnomAD v4:
12-117835066-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117835066C>A , CM000674.2:g.117835066C>A | GRCh38 |
| NC_000012.11:g.118272871C>A , CM000674.1:g.118272871C>A | GRCh37 |
| NC_000012.10:g.116757254C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339824.7:c.472+20362G>T MANE Select | ENSP00000339952.4:n.472+20362G>T | |
| ENST00000339824.6:c.472+20362G>T | ENSP00000339952.4:n.472+20362G>T | |
| ENST00000425217.5:c.385+20362G>T | ENSP00000389715.1:n.385+20362G>T | |
| NM_173598.4:c.385+20362G>T | NP_775869.3:n.385+20362G>T | |
| XM_011538224.1:c.472+20362G>T | XP_011536526.1:n.472+20362G>T | |
| XM_011538225.1:c.109+20362G>T | XP_011536527.1:n.109+20362G>T | |
| XM_011538226.1:c.472+20362G>T | XP_011536528.1:n.472+20362G>T | |
| XM_011538229.1:c.472+20362G>T | XP_011536531.1:n.472+20362G>T | |
| XR_944522.1:n.1306+20362G>T | ||
| XR_945400.1:n.265+829C>A | ||
| XR_945401.1:n.265+829C>A | ||
| XR_945402.1:n.265+829C>A | ||
| XR_945403.1:n.255+829C>A | ||
| XR_945404.1:n.192+2207C>A | ||
| XM_011538224.3:c.472+20362G>T | XP_011536526.1:n.472+20362G>T | |
| XM_011538225.3:c.109+20362G>T | XP_011536527.1:n.109+20362G>T | |
| XM_011538226.3:c.472+20362G>T | XP_011536528.1:n.472+20362G>T | |
| XM_011538229.3:c.472+20362G>T | XP_011536531.1:n.472+20362G>T | |
| XM_017019208.2:c.472+20362G>T | XP_016874697.1:n.472+20362G>T | |
| XM_017019209.2:c.472+20362G>T | XP_016874698.1:n.472+20362G>T | |
| XR_945400.2:n.668+829C>A | ||
| XR_945401.2:n.668+829C>A | ||
| XR_945403.2:n.658+829C>A | ||
| XR_945404.2:n.595+2207C>A | ||
| NM_173598.6:c.472+20362G>T MANE Select | NP_775869.4:n.472+20362G>T |