Linked Data
dbSNP Id:
rs764484530
ExAC:
17:48270343 G / A
gnomAD v2:
17-48270343-G-A
gnomAD v4:
17-50192982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192982G>A , CM000679.2:g.50192982G>A | GRCh38 |
| NC_000017.10:g.48270343G>A , CM000679.1:g.48270343G>A | GRCh37 |
| NC_000017.9:g.45625342G>A | NCBI36 |
| NG_007400.1:g.13658C>T , LRG_1:g.13658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1821+12C>T MANE Select | ENSP00000225964.6:n.1821+12C>T | |
| ENST00000225964.9:c.1821+12C>T | ENSP00000225964.5:n.1821+12C>T | |
| ENST00000476387.1:n.170+12C>T | ||
| NM_000088.3:c.1821+12C>T , LRG_1t1:c.1821+12C>T | NP_000079.2:n.1821+12C>T | |
| XM_005257058.3:c.1821+12C>T | XP_005257115.2:n.1821+12C>T | |
| XM_005257059.3:c.958-289C>T | XP_005257116.2:n.958-289C>T | |
| XM_011524341.1:c.1623+12C>T | XP_011522643.1:n.1623+12C>T | |
| XM_005257058.4:c.1821+12C>T | XP_005257115.2:n.1821+12C>T | |
| XM_005257059.4:c.958-289C>T | XP_005257116.2:n.958-289C>T | |
| NM_000088.4:c.1821+12C>T MANE Select | NP_000079.2:n.1821+12C>T |