Linked Data
gnomAD v3:
12-40363528-A-C
gnomAD v4:
12-40363528-A-C
MyVariant Identifiers:
chr12:g.40757330A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363528A>C , CM000674.2:g.40363528A>C | GRCh38 |
| NC_000012.11:g.40757330A>C , CM000674.1:g.40757330A>C | GRCh37 |
| NC_000012.10:g.39043597A>C | NCBI36 |
| NG_011709.1:g.143518A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.7155A>C MANE Select | ENSP00000298910.7:p.Gly2385= | |
| ENST00000636518.1:c.952A>C | ||
| ENST00000679360.1:c.*6064A>C | ENSP00000505368.1:n.*6064A>C | |
| ENST00000679532.1:c.2929A>C | ||
| ENST00000679683.1:c.945A>C | ||
| ENST00000680018.1:c.2600A>C | ENSP00000505347.1:n.2600A>C | |
| ENST00000680422.1:c.4242A>C | ||
| ENST00000680425.1:c.2322A>C | ENSP00000506459.1:n.2322A>C | |
| ENST00000680453.1:c.2612A>C | ||
| ENST00000680790.1:c.6900A>C | ENSP00000505335.1:p.Gly2300= | |
| ENST00000681136.1:n.3139A>C | ||
| ENST00000681696.1:c.2838A>C | ENSP00000505871.1:p.Gly946= | |
| ENST00000681773.1:n.362A>C | ||
| ENST00000298910.11:c.7155A>C | ENSP00000298910.7:p.Gly2385= | |
| ENST00000430804.5:c.4451A>C | ||
| ENST00000479187.5:n.3836A>C | ||
| NM_198578.3:c.7155A>C | NP_940980.3:p.Gly2385= | |
| XM_005268629.2:c.7155A>C | XP_005268686.1:p.Gly2385= | |
| XM_011537877.1:c.7155A>C | XP_011536179.1:p.Gly2385= | |
| XM_011537879.1:c.5952A>C | XP_011536181.1:p.Gly1984= | |
| XR_944868.1:n.485-8701T>G | ||
| XM_005268629.4:c.7155A>C | XP_005268686.1:p.Gly2385= | |
| XM_011537877.3:c.7155A>C | XP_011536179.1:p.Gly2385= | |
| XM_017018787.1:c.4071A>C | XP_016874276.1:p.Gly1357= | |
| XM_017018788.2:c.3417A>C | XP_016874277.1:p.Gly1139= | |
| XM_024448833.1:c.5952A>C | XP_024304601.1:p.Gly1984= | |
| XR_944868.2:n.485-8701T>G | ||
| NM_198578.4:c.7155A>C MANE Select | NP_940980.4:p.Gly2385= |