Linked Data
dbSNP Id:
rs1918974
gnomAD v2:
3-169165888-C-T
gnomAD v3:
3-169448100-C-T
gnomAD v4:
3-169448100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169448100C>T , CM000665.2:g.169448100C>T | GRCh38 |
| NC_000003.11:g.169165888C>T , CM000665.1:g.169165888C>T | GRCh37 |
| NC_000003.10:g.170648582C>T | NCBI36 |
| NG_028279.1:g.220676G>A | |
| NG_028279.2:g.220676G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486748.2:c.110-66576G>A (MECOM) | ENSP00000419537.1:n.110-66576G>A | |
| ENST00000494292.6:c.38-66576G>A (MECOM) | ENSP00000417899.1:n.38-66576G>A | |
| ENST00000651503.2:c.38-66576G>A (MECOM) MANE Select | ENSP00000498411.1:n.38-66576G>A | |
| ENST00000485957.1:n.284-66576G>A (MECOM) | ||
| ENST00000486748.1:c.110-66576G>A (MECOM) | ENSP00000419537.1:n.110-66576G>A | |
| ENST00000494292.5:c.38-66576G>A (MECOM) | ENSP00000417899.1:n.38-66576G>A | |
| NM_001205194.1:c.-190+215236G>A (MECOM) | NP_001192123.1:n.-190+215236G>A | |
| NM_004991.3:c.38-66576G>A (MECOM) | NP_004982.2:n.38-66576G>A | |
| XM_005247213.2:c.38-66576G>A (MECOM) | XP_005247270.1:n.38-66576G>A | |
| XM_005247214.2:c.38-66576G>A (MECOM) | XP_005247271.1:n.38-66576G>A | |
| XM_005247215.2:c.38-66576G>A (MECOM) | XP_005247272.1:n.38-66576G>A | |
| XM_005247224.2:c.38-66576G>A (MECOM) | XP_005247281.1:n.38-66576G>A | |
| XM_005247225.2:c.38-66576G>A (MECOM) | XP_005247282.1:n.38-66576G>A | |
| XM_005247226.2:c.38-66576G>A (MECOM) | XP_005247283.1:n.38-66576G>A | |
| XR_924693.1:n.161+165C>T (MECOM-AS1) | ||
| XR_924694.1:n.161+165C>T (MECOM-AS1) | ||
| XR_924695.1:n.97+229C>T (MECOM-AS1) | ||
| NM_001366466.1:c.38-66576G>A (MECOM) | NP_001353395.1:n.38-66576G>A | |
| NM_001366473.1:c.38-66576G>A (MECOM) | NP_001353402.1:n.38-66576G>A | |
| NR_134932.1:n.69+165C>T (MECOM-AS1) | ||
| XM_005247213.3:c.38-66576G>A (MECOM) | XP_005247270.1:n.38-66576G>A | |
| XM_005247214.3:c.38-66576G>A (MECOM) | XP_005247271.1:n.38-66576G>A | |
| XM_005247224.3:c.38-66576G>A (MECOM) | XP_005247281.1:n.38-66576G>A | |
| XM_005247225.4:c.38-66576G>A (MECOM) | XP_005247282.1:n.38-66576G>A | |
| XM_017005877.1:c.38-66576G>A (MECOM) | XP_016861366.1:n.38-66576G>A | |
| NM_001205194.2:c.-190+215236G>A (MECOM) | NP_001192123.1:n.-190+215236G>A | |
| NM_001366466.2:c.38-66576G>A (MECOM) | NP_001353395.1:n.38-66576G>A | |
| NM_001366473.2:c.38-66576G>A (MECOM) | NP_001353402.1:n.38-66576G>A | |
| NM_004991.4:c.38-66576G>A (MECOM) MANE Select | NP_004982.2:n.38-66576G>A |