Linked Data
dbSNP Id:
rs1361721036
gnomAD v2:
12-56557611-C-T
gnomAD v3:
12-56163827-C-T
gnomAD v4:
12-56163827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56163827C>T , CM000674.2:g.56163827C>T | GRCh38 |
| NC_000012.11:g.56557611C>T , CM000674.1:g.56557611C>T | GRCh37 |
| NC_000012.10:g.54843878C>T | NCBI36 |
| NG_047081.1:g.30741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550164.6:c.3662-62G>A MANE Select | ENSP00000449396.1:n.3662-62G>A | |
| ENST00000267064.8:c.3569-62G>A | ENSP00000267064.4:n.3569-62G>A | |
| ENST00000347471.8:c.3317-62G>A | ENSP00000302919.4:n.3317-62G>A | |
| ENST00000394023.7:c.3383-62G>A | ENSP00000377591.3:n.3383-62G>A | |
| ENST00000550164.5:c.3662-62G>A | ENSP00000449396.1:n.3662-62G>A | |
| ENST00000552674.5:c.*2980-62G>A | ENSP00000447680.1:n.*2980-62G>A | |
| NM_001130420.1:c.3383-62G>A | NP_001123892.1:n.3383-62G>A | |
| NM_003075.3:c.3569-62G>A | NP_003066.2:n.3569-62G>A | |
| NM_139067.2:c.3317-62G>A | NP_620706.1:n.3317-62G>A | |
| XM_005269101.1:c.3662-62G>A | XP_005269158.1:n.3662-62G>A | |
| XM_005269102.1:c.3659-62G>A | XP_005269159.1:n.3659-62G>A | |
| XM_005269103.1:c.3566-62G>A | XP_005269160.1:n.3566-62G>A | |
| XM_005269104.1:c.3380-62G>A | XP_005269161.1:n.3380-62G>A | |
| XM_011538693.1:c.2909-62G>A | XP_011536995.1:n.2909-62G>A | |
| NM_001130420.2:c.3383-62G>A | NP_001123892.1:n.3383-62G>A | |
| NM_001330288.1:c.3662-62G>A | NP_001317217.1:n.3662-62G>A | |
| NM_003075.4:c.3569-62G>A | NP_003066.2:n.3569-62G>A | |
| NM_139067.3:c.3317-62G>A | NP_620706.1:n.3317-62G>A | |
| XM_005269102.2:c.3659-62G>A | XP_005269159.1:n.3659-62G>A | |
| XM_005269103.2:c.3566-62G>A | XP_005269160.1:n.3566-62G>A | |
| XM_011538693.3:c.2909-62G>A | XP_011536995.1:n.2909-62G>A | |
| XM_017019884.1:c.3314-62G>A | XP_016875373.1:n.3314-62G>A | |
| XM_017019885.1:c.3290-62G>A | XP_016875374.1:n.3290-62G>A | |
| XM_017019886.1:c.3224-62G>A | XP_016875375.1:n.3224-62G>A | |
| XM_017019887.2:c.2816-62G>A | XP_016875376.1:n.2816-62G>A | |
| XR_002957373.1:n.3446-62G>A | ||
| XR_002957374.1:n.3167-62G>A | ||
| NM_001330288.2:c.3662-62G>A MANE Select | NP_001317217.1:n.3662-62G>A | |
| NM_001130420.3:c.3383-62G>A | NP_001123892.1:n.3383-62G>A | |
| NM_003075.5:c.3569-62G>A | NP_003066.2:n.3569-62G>A | |
| NM_139067.4:c.3317-62G>A | NP_620706.1:n.3317-62G>A |