Linked Data
ClinVar Variation Id:
472948
dbSNP Id:
rs34656552
ExAC:
7:2578947 C / A
gnomAD v2:
7-2578947-C-A
gnomAD v3:
7-2539313-C-A
gnomAD v4:
7-2539313-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2539313C>A , CM000669.2:g.2539313C>A | GRCh38 |
| NC_000007.13:g.2578947C>A , CM000669.1:g.2578947C>A | GRCh37 |
| NC_000007.12:g.2545473C>A | NCBI36 |
| NG_032167.1:g.21446G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340611.9:c.1636G>T MANE Select | ENSP00000339637.4:p.Val546Leu | |
| ENST00000340611.8:c.1636G>T | ENSP00000339637.4:p.Val546Leu | |
| ENST00000467558.5:n.3008G>T | ||
| ENST00000469750.5:n.4208G>T | ||
| ENST00000473879.1:n.313+231G>T | ||
| ENST00000493232.5:n.4476+231G>T | ||
| NM_152743.3:c.1636G>T | NP_689956.2:p.Val546Leu | |
| XM_005249643.3:c.1636G>T | XP_005249700.1:p.Val546Leu | |
| XM_011515177.1:c.1720G>T | XP_011513479.1:p.Val574Leu | |
| XM_011515178.1:c.1720G>T | XP_011513480.1:p.Val574Leu | |
| XM_011515179.1:c.1717G>T | XP_011513481.1:p.Val573Leu | |
| XM_011515180.1:c.1690G>T | XP_011513482.1:p.Val564Leu | |
| XM_011515181.1:c.1720G>T | XP_011513483.1:p.Val574Leu | |
| XM_011515182.1:c.1720G>T | XP_011513484.1:p.Val574Leu | |
| XM_011515183.1:c.1195G>T | XP_011513485.1:p.Val399Leu | |
| XM_011515184.1:c.1195G>T | XP_011513486.1:p.Val399Leu | |
| XM_011515185.1:c.1636G>T | XP_011513487.1:p.Val546Leu | |
| XM_011515186.1:c.1681+231G>T | XP_011513488.1:n.1681+231G>T | |
| XM_011515187.1:c.292G>T | XP_011513489.1:p.Val98Leu | |
| NM_001350626.1:c.1636G>T | NP_001337555.1:p.Val546Leu | |
| NM_001350627.1:c.1111G>T | NP_001337556.1:p.Val371Leu | |
| NR_146879.1:n.2053G>T | ||
| XM_011515177.2:c.1720G>T | XP_011513479.1:p.Val574Leu | |
| XM_011515179.2:c.1717G>T | XP_011513481.1:p.Val573Leu | |
| XM_011515181.2:c.1720G>T | XP_011513483.1:p.Val574Leu | |
| XM_011515182.2:c.1720G>T | XP_011513484.1:p.Val574Leu | |
| XM_011515184.3:c.1195G>T | XP_011513486.1:p.Val399Leu | |
| XM_011515186.2:c.1681+231G>T | XP_011513488.1:n.1681+231G>T | |
| XM_017011833.1:c.1633G>T | XP_016867322.1:p.Val545Leu | |
| XM_017011834.1:c.1633G>T | XP_016867323.1:p.Val545Leu | |
| XM_017011836.2:c.1597+231G>T | XP_016867325.1:n.1597+231G>T | |
| XM_024446682.1:c.292G>T | XP_024302450.1:p.Val98Leu | |
| NM_152743.4:c.1636G>T MANE Select | NP_689956.2:p.Val546Leu | |
| NM_001350626.2:c.1636G>T | NP_001337555.1:p.Val546Leu | |
| NM_001350627.2:c.1111G>T | NP_001337556.1:p.Val371Leu | |
| NR_146879.2:n.1819G>T |