Linked Data
ClinVar Variation Id:
472966
ClinVar RCV Id:
RCV000544051
dbSNP Id:
rs192133446
ExAC:
7:2586949 C / T
gnomAD v2:
7-2586949-C-T
gnomAD v3:
7-2547315-C-T
gnomAD v4:
7-2547315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2547315C>T , CM000669.2:g.2547315C>T | GRCh38 |
| NC_000007.13:g.2586949C>T , CM000669.1:g.2586949C>T | GRCh37 |
| NC_000007.12:g.2553475C>T | NCBI36 |
| NG_032167.1:g.13444G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340611.9:c.282+9G>A MANE Select | ENSP00000339637.4:n.282+9G>A | |
| ENST00000340611.8:c.282+9G>A | ENSP00000339637.4:n.282+9G>A | |
| ENST00000421712.1:c.282+9G>A | ENSP00000409209.2:n.282+9G>A | |
| ENST00000467558.5:n.298+9G>A | ||
| ENST00000469750.5:n.506+9G>A | ||
| NM_152743.3:c.282+9G>A | NP_689956.2:n.282+9G>A | |
| XM_005249643.3:c.282+9G>A | XP_005249700.1:n.282+9G>A | |
| XM_011515177.1:c.282+9G>A | XP_011513479.1:n.282+9G>A | |
| XM_011515178.1:c.282+9G>A | XP_011513480.1:n.282+9G>A | |
| XM_011515179.1:c.282+9G>A | XP_011513481.1:n.282+9G>A | |
| XM_011515180.1:c.400+9G>A | XP_011513482.1:n.400+9G>A | |
| XM_011515181.1:c.282+9G>A | XP_011513483.1:n.282+9G>A | |
| XM_011515182.1:c.282+9G>A | XP_011513484.1:n.282+9G>A | |
| XM_011515183.1:c.-96+9G>A | XP_011513485.1:n.-96+9G>A | |
| XM_011515184.1:c.-244+9G>A | XP_011513486.1:n.-244+9G>A | |
| XM_011515185.1:c.282+9G>A | XP_011513487.1:n.282+9G>A | |
| XM_011515186.1:c.282+9G>A | XP_011513488.1:n.282+9G>A | |
| NM_001350626.1:c.282+9G>A | NP_001337555.1:n.282+9G>A | |
| NM_001350627.1:c.-96+9G>A | NP_001337556.1:n.-96+9G>A | |
| NR_146879.1:n.575+9G>A | ||
| XM_011515177.2:c.282+9G>A | XP_011513479.1:n.282+9G>A | |
| XM_011515179.2:c.282+9G>A | XP_011513481.1:n.282+9G>A | |
| XM_011515181.2:c.282+9G>A | XP_011513483.1:n.282+9G>A | |
| XM_011515182.2:c.282+9G>A | XP_011513484.1:n.282+9G>A | |
| XM_011515184.3:c.-244+9G>A | XP_011513486.1:n.-244+9G>A | |
| XM_011515186.2:c.282+9G>A | XP_011513488.1:n.282+9G>A | |
| XM_017011833.1:c.282+9G>A | XP_016867322.1:n.282+9G>A | |
| XM_017011834.1:c.282+9G>A | XP_016867323.1:n.282+9G>A | |
| XM_017011836.2:c.282+9G>A | XP_016867325.1:n.282+9G>A | |
| NM_152743.4:c.282+9G>A MANE Select | NP_689956.2:n.282+9G>A | |
| NM_001350626.2:c.282+9G>A | NP_001337555.1:n.282+9G>A | |
| NM_001350627.2:c.-96+9G>A | NP_001337556.1:n.-96+9G>A | |
| NR_146879.2:n.341+9G>A |