Linked Data
dbSNP Id:
rs1872227877
gnomAD v3:
12-56163758-G-A
gnomAD v4:
12-56163758-G-A
MyVariant Identifiers:
chr12:g.56557542G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56163758G>A , CM000674.2:g.56163758G>A | GRCh38 |
| NC_000012.11:g.56557542G>A , CM000674.1:g.56557542G>A | GRCh37 |
| NC_000012.10:g.54843809G>A | NCBI36 |
| NG_047081.1:g.30810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550164.6:c.3669C>T MANE Select | ENSP00000449396.1:p.Gly1223= | |
| ENST00000267064.8:c.3576C>T | ENSP00000267064.4:p.Gly1192= | |
| ENST00000347471.8:c.3324C>T | ENSP00000302919.4:p.Gly1108= | |
| ENST00000394023.7:c.3390C>T | ENSP00000377591.3:p.Gly1130= | |
| ENST00000550164.5:c.3669C>T | ENSP00000449396.1:p.Gly1223= | |
| ENST00000552674.5:c.*2987C>T | ENSP00000447680.1:n.*2987C>T | |
| NM_001130420.1:c.3390C>T | NP_001123892.1:p.Gly1130= | |
| NM_003075.3:c.3576C>T | NP_003066.2:p.Gly1192= | |
| NM_139067.2:c.3324C>T | NP_620706.1:p.Gly1108= | |
| XM_005269101.1:c.3669C>T | XP_005269158.1:p.Gly1223= | |
| XM_005269102.1:c.3666C>T | XP_005269159.1:p.Gly1222= | |
| XM_005269103.1:c.3573C>T | XP_005269160.1:p.Gly1191= | |
| XM_005269104.1:c.3387C>T | XP_005269161.1:p.Gly1129= | |
| XM_011538693.1:c.2916C>T | XP_011536995.1:p.Gly972= | |
| NM_001130420.2:c.3390C>T | NP_001123892.1:p.Gly1130= | |
| NM_001330288.1:c.3669C>T | NP_001317217.1:p.Gly1223= | |
| NM_003075.4:c.3576C>T | NP_003066.2:p.Gly1192= | |
| NM_139067.3:c.3324C>T | NP_620706.1:p.Gly1108= | |
| XM_005269102.2:c.3666C>T | XP_005269159.1:p.Gly1222= | |
| XM_005269103.2:c.3573C>T | XP_005269160.1:p.Gly1191= | |
| XM_011538693.3:c.2916C>T | XP_011536995.1:p.Gly972= | |
| XM_017019884.1:c.3321C>T | XP_016875373.1:p.Gly1107= | |
| XM_017019885.1:c.3297C>T | XP_016875374.1:p.Gly1099= | |
| XM_017019886.1:c.3231C>T | XP_016875375.1:p.Gly1077= | |
| XM_017019887.2:c.2823C>T | XP_016875376.1:p.Gly941= | |
| XR_002957373.1:n.3453C>T | ||
| XR_002957374.1:n.3174C>T | ||
| NM_001330288.2:c.3669C>T MANE Select | NP_001317217.1:p.Gly1223= | |
| NM_001130420.3:c.3390C>T | NP_001123892.1:p.Gly1130= | |
| NM_003075.5:c.3576C>T | NP_003066.2:p.Gly1192= | |
| NM_139067.4:c.3324C>T | NP_620706.1:p.Gly1108= |