Linked Data
dbSNP Id:
rs11130222
gnomAD v2:
3-49901060-A-T
gnomAD v3:
3-49863627-A-T
gnomAD v4:
3-49863627-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49863627A>T , CM000665.2:g.49863627A>T | GRCh38 |
| NC_000003.11:g.49901060A>T , CM000665.1:g.49901060A>T | GRCh37 |
| NC_000003.10:g.49876064A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477224.6:c.-14-1225T>A MANE Select | ENSP00000419195.1:n.-14-1225T>A | |
| ENST00000296471.11:c.-14-1225T>A | ENSP00000296471.6:n.-14-1225T>A | |
| ENST00000463537.5:c.-14-1225T>A | ENSP00000417614.1:n.-14-1225T>A | |
| ENST00000466535.5:c.-14-1225T>A | ENSP00000420766.1:n.-14-1225T>A | |
| ENST00000466940.5:c.-14-1225T>A | ENSP00000420724.1:n.-14-1225T>A | |
| ENST00000467248.5:c.-201-1225T>A | ENSP00000420053.1:n.-201-1225T>A | |
| ENST00000475665.5:n.147-1225T>A | ||
| ENST00000476105.1:n.149-1225T>A | ||
| ENST00000477224.5:c.-14-1225T>A | ENSP00000419195.1:n.-14-1225T>A | |
| ENST00000479704.5:n.149-1225T>A | ||
| ENST00000480398.2:c.-14-1225T>A | ENSP00000420000.2:n.-14-1225T>A | |
| ENST00000487726.5:c.-14-1225T>A | ENSP00000420139.1:n.-14-1225T>A | |
| ENST00000488336.5:c.-14-1225T>A | ENSP00000418809.1:n.-14-1225T>A | |
| ENST00000498324.5:n.149-1225T>A | ||
| NM_024046.3:c.-14-1225T>A | NP_076951.2:n.-14-1225T>A | |
| XM_005265478.1:c.-14-1225T>A | XP_005265535.1:n.-14-1225T>A | |
| NM_001320147.1:c.-14-1225T>A | NP_001307076.1:n.-14-1225T>A | |
| NM_024046.4:c.-14-1225T>A | NP_076951.2:n.-14-1225T>A | |
| NM_024046.5:c.-14-1225T>A MANE Select | NP_076951.2:n.-14-1225T>A | |
| NM_001320147.2:c.-14-1225T>A | NP_001307076.1:n.-14-1225T>A |