Linked Data
dbSNP Id:
rs2297909
ExAC:
1:200960307 G / A
gnomAD v2:
1-200960307-G-A
gnomAD v3:
1-200991179-G-A
gnomAD v4:
1-200991179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200991179G>A , CM000663.2:g.200991179G>A | GRCh38 |
| NC_000001.10:g.200960307G>A , CM000663.1:g.200960307G>A | GRCh37 |
| NC_000001.9:g.199226930G>A | NCBI36 |
| NG_047130.1:g.37522C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461742.7:c.2455-30C>T MANE Select | ENSP00000433808.1:n.2455-30C>T | |
| ENST00000332129.6:c.2455-30C>T | ENSP00000328494.2:n.2455-30C>T | |
| ENST00000360529.9:c.2455-30C>T | ENSP00000353724.5:n.2455-30C>T | |
| ENST00000422435.2:c.2455-30C>T | ENSP00000411831.2:n.2455-30C>T | |
| ENST00000461742.6:c.2455-30C>T | ENSP00000433808.1:n.2455-30C>T | |
| NM_001252100.1:c.2455-30C>T | NP_001239029.1:n.2455-30C>T | |
| NM_001252102.1:c.2455-30C>T | NP_001239031.1:n.2455-30C>T | |
| NM_001252103.1:c.2455-30C>T | NP_001239032.1:n.2455-30C>T | |
| NM_017596.3:c.2455-30C>T | NP_060066.2:n.2455-30C>T | |
| XR_921754.1:n.2561-30C>T | ||
| XR_921755.1:n.2394-30C>T | ||
| XR_921756.1:n.1529-30C>T | ||
| XR_921757.1:n.1556-30C>T | ||
| XR_921758.1:n.888-30C>T | ||
| XM_017000731.1:c.2287-30C>T | XP_016856220.1:n.2287-30C>T | |
| XM_017000732.1:c.1252-30C>T | XP_016856221.1:n.1252-30C>T | |
| NM_001252100.2:c.2455-30C>T | NP_001239029.1:n.2455-30C>T | |
| NM_001252102.2:c.2455-30C>T MANE Select | NP_001239031.1:n.2455-30C>T | |
| NM_001252103.2:c.2455-30C>T | NP_001239032.1:n.2455-30C>T | |
| NM_017596.4:c.2455-30C>T | NP_060066.2:n.2455-30C>T |