Linked Data
dbSNP Id:
rs117576300
gnomAD v2:
7-81768172-G-A
gnomAD v3:
7-82138856-G-A
gnomAD v4:
7-82138856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.82138856G>A , CM000669.2:g.82138856G>A | GRCh38 |
| NC_000007.13:g.81768172G>A , CM000669.1:g.81768172G>A | GRCh37 |
| NC_000007.12:g.81606108G>A | NCBI36 |
| NG_009358.2:g.309860C>T , LRG_437:g.309860C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443883.2:c.355-2180C>T | ENSP00000409374.2:n.355-2180C>T | |
| ENST00000705961.1:c.137-2180C>T | ||
| ENST00000705962.1:c.271-2180C>T | ENSP00000516190.1:n.271-2180C>T | |
| ENST00000356860.8:c.355-2180C>T MANE Select | ENSP00000349320.3:n.355-2180C>T | |
| ENST00000356253.9:c.355-2180C>T | ENSP00000348589.5:n.355-2180C>T | |
| ENST00000356860.7:c.355-2180C>T | ENSP00000349320.3:n.355-2180C>T | |
| ENST00000423588.1:c.355-2180C>T | ENSP00000405395.1:n.355-2180C>T | |
| ENST00000484706.1:n.361-2180C>T | ||
| NM_000722.3:c.355-2180C>T | NP_000713.2:n.355-2180C>T | |
| NM_001302890.1:c.355-2180C>T | NP_001289819.1:n.355-2180C>T | |
| XM_005250570.1:c.355-2180C>T | XP_005250627.1:n.355-2180C>T | |
| XM_005250572.1:c.355-2180C>T | XP_005250629.1:n.355-2180C>T | |
| XM_005250573.1:c.355-2180C>T | XP_005250630.1:n.355-2180C>T | |
| XM_005250574.1:c.355-2180C>T | XP_005250631.1:n.355-2180C>T | |
| XM_006716118.1:c.355-2180C>T | XP_006716181.1:n.355-2180C>T | |
| XM_006716119.2:c.280-2180C>T | XP_006716182.1:n.280-2180C>T | |
| XM_006716120.2:c.238-2180C>T | XP_006716183.1:n.238-2180C>T | |
| XM_011516570.1:c.355-2180C>T | XP_011514872.1:n.355-2180C>T | |
| XM_011516571.1:c.355-2180C>T | XP_011514873.1:n.355-2180C>T | |
| XM_011516572.1:c.355-2180C>T | XP_011514874.1:n.355-2180C>T | |
| XM_011516573.1:c.124-2180C>T | XP_011514875.1:n.124-2180C>T | |
| XM_011516574.1:c.355-2180C>T | XP_011514876.1:n.355-2180C>T | |
| NM_001366867.1:c.355-2180C>T | NP_001353796.1:n.355-2180C>T | |
| XM_005250572.3:c.355-2180C>T | XP_005250629.1:n.355-2180C>T | |
| XM_005250573.3:c.355-2180C>T | XP_005250630.1:n.355-2180C>T | |
| XM_005250574.3:c.355-2180C>T | XP_005250631.1:n.355-2180C>T | |
| XM_006716118.3:c.355-2180C>T | XP_006716181.1:n.355-2180C>T | |
| XM_006716119.3:c.280-2180C>T | XP_006716182.1:n.280-2180C>T | |
| XM_006716120.3:c.238-2180C>T | XP_006716183.1:n.238-2180C>T | |
| XM_011516570.3:c.355-2180C>T | XP_011514872.1:n.355-2180C>T | |
| XM_011516571.3:c.355-2180C>T | XP_011514873.1:n.355-2180C>T | |
| XM_011516572.3:c.355-2180C>T | XP_011514874.1:n.355-2180C>T | |
| XM_017012588.1:c.238-2180C>T | XP_016868077.1:n.238-2180C>T | |
| XR_001744873.2:n.375-2180C>T | ||
| XR_001744874.2:n.375-2180C>T | ||
| NM_000722.4:c.355-2180C>T MANE Select | NP_000713.2:n.355-2180C>T | |
| NM_001302890.2:c.355-2180C>T | NP_001289819.1:n.355-2180C>T |