Linked Data
dbSNP Id:
rs1592133187
gnomAD v4:
12-49039501-A-C
MyVariant Identifiers:
chr12:g.49433284A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039501A>C , CM000674.2:g.49039501A>C | GRCh38 |
| NC_000012.11:g.49433284A>C , CM000674.1:g.49433284A>C | GRCh37 |
| NC_000012.10:g.47719551A>C | NCBI36 |
| NG_027827.1:g.20824T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.8163T>G | ENSP00000506726.1:p.Gly2721= | |
| ENST00000685166.1:c.8172T>G | ENSP00000509386.1:p.Gly2724= | |
| ENST00000689060.1:c.2182T>G | ||
| ENST00000689143.1:c.1836T>G | ENSP00000509839.1:p.Gly612= | |
| ENST00000689944.1:c.2272T>G | ||
| ENST00000692637.1:c.8160T>G | ENSP00000509666.1:p.Gly2720= | |
| ENST00000301067.12:c.8163T>G MANE Select | ENSP00000301067.7:p.Gly2721= | |
| ENST00000301067.11:c.8163T>G | ENSP00000301067.7:p.Gly2721= | |
| NM_003482.3:c.8163T>G | NP_003473.3:p.Gly2721= | |
| XM_005269162.3:c.8163T>G | XP_005269219.1:p.Gly2721= | |
| XM_006719614.2:c.8172T>G | XP_006719677.1:p.Gly2724= | |
| XM_006719616.2:c.8160T>G | XP_006719679.1:p.Gly2720= | |
| XM_011538770.1:c.8172T>G | XP_011537072.1:p.Gly2724= | |
| XM_011538771.1:c.8169T>G | XP_011537073.1:p.Gly2723= | |
| XM_011538772.1:c.8163T>G | XP_011537074.1:p.Gly2721= | |
| XM_011538773.1:c.8160T>G | XP_011537075.1:p.Gly2720= | |
| XM_011538774.1:c.8151T>G | XP_011537076.1:p.Gly2717= | |
| XM_011538775.1:c.8172T>G | XP_011537077.1:p.Gly2724= | |
| XM_011538776.1:c.8079T>G | XP_011537078.1:p.Gly2693= | |
| XR_944740.1:n.10492T>G | ||
| XM_005269162.4:c.8163T>G | XP_005269219.1:p.Gly2721= | |
| XM_006719614.4:c.8172T>G | XP_006719677.1:p.Gly2724= | |
| XM_006719616.3:c.8160T>G | XP_006719679.1:p.Gly2720= | |
| XM_011538770.2:c.8172T>G | XP_011537072.1:p.Gly2724= | |
| XM_011538771.2:c.8169T>G | XP_011537073.1:p.Gly2723= | |
| XM_011538772.2:c.8163T>G | XP_011537074.1:p.Gly2721= | |
| XM_011538773.2:c.8160T>G | XP_011537075.1:p.Gly2720= | |
| XM_011538774.2:c.8151T>G | XP_011537076.1:p.Gly2717= | |
| XM_011538776.2:c.8079T>G | XP_011537078.1:p.Gly2693= | |
| XR_001748874.1:n.9481T>G | ||
| NM_003482.4:c.8163T>G MANE Select | NP_003473.3:p.Gly2721= |