Linked Data
dbSNP Id:
rs751991711
ExAC:
8:86240744 G / A
gnomAD v2:
8-86240744-G-A
gnomAD v3:
8-85328515-G-A
gnomAD v4:
8-85328515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85328515G>A , CM000670.2:g.85328515G>A | GRCh38 |
| NC_000008.10:g.86240744G>A , CM000670.1:g.86240744G>A | GRCh37 |
| NC_000008.9:g.86427996G>A | NCBI36 |
| NG_016221.1:g.54599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523022.6:c.*45C>T MANE Select | ENSP00000429798.1:n.*45C>T | |
| ENST00000431316.3:c.*45C>T | ENSP00000392338.1:n.*45C>T | |
| ENST00000521679.5:c.580C>T | ||
| ENST00000522389.5:c.*45C>T | ENSP00000427773.1:n.*45C>T | |
| ENST00000523022.5:c.*45C>T | ENSP00000429798.1:n.*45C>T | |
| ENST00000523953.5:c.*45C>T | ENSP00000430656.1:n.*45C>T | |
| ENST00000542576.5:c.*45C>T | ENSP00000443517.1:n.*45C>T | |
| ENST00000626824.1:c.*45C>T | ENSP00000486171.1:n.*45C>T | |
| NM_001128829.3:c.*45C>T | NP_001122301.1:n.*45C>T | |
| NM_001128830.3:c.*45C>T | NP_001122302.1:n.*45C>T | |
| NM_001128831.3:c.*45C>T | NP_001122303.1:n.*45C>T | |
| NM_001164830.1:c.*45C>T | NP_001158302.1:n.*45C>T | |
| NM_001291967.1:c.*45C>T | NP_001278896.1:n.*45C>T | |
| NM_001291968.1:c.*45C>T | NP_001278897.1:n.*45C>T | |
| NM_001738.4:c.*45C>T | NP_001729.1:n.*45C>T | |
| XM_011517584.1:c.*45C>T | XP_011515886.1:n.*45C>T | |
| NM_001128829.4:c.*45C>T | NP_001122301.1:n.*45C>T | |
| NM_001128830.4:c.*45C>T | NP_001122302.1:n.*45C>T | |
| NM_001128831.4:c.*45C>T MANE Select | NP_001122303.1:n.*45C>T | |
| NM_001164830.2:c.*45C>T | NP_001158302.1:n.*45C>T | |
| NM_001291967.2:c.*45C>T | NP_001278896.1:n.*45C>T | |
| NM_001291968.2:c.*45C>T | NP_001278897.1:n.*45C>T | |
| NM_001738.5:c.*45C>T | NP_001729.1:n.*45C>T |