Linked Data
dbSNP Id:
rs757339027
ExAC:
17:48262819 A / T
gnomAD v2:
17-48262819-A-T
gnomAD v3:
17-50185458-A-T
gnomAD v4:
17-50185458-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185458A>T , CM000679.2:g.50185458A>T | GRCh38 |
| NC_000017.10:g.48262819A>T , CM000679.1:g.48262819A>T | GRCh37 |
| NC_000017.9:g.45617818A>T | NCBI36 |
| NG_007400.1:g.21182T>A , LRG_1:g.21182T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.*44T>A MANE Select | ENSP00000225964.6:n.*44T>A | |
| ENST00000225964.9:c.*44T>A | ENSP00000225964.5:n.*44T>A | |
| NM_000088.3:c.*44T>A , LRG_1t1:c.*44T>A | NP_000079.2:n.*44T>A | |
| XM_005257058.3:c.*44T>A | XP_005257115.2:n.*44T>A | |
| XM_005257059.3:c.*44T>A | XP_005257116.2:n.*44T>A | |
| XM_011524341.1:c.*44T>A | XP_011522643.1:n.*44T>A | |
| XM_005257058.4:c.*44T>A | XP_005257115.2:n.*44T>A | |
| XM_005257059.4:c.*44T>A | XP_005257116.2:n.*44T>A | |
| NM_000088.4:c.*44T>A MANE Select | NP_000079.2:n.*44T>A |