Linked Data
ClinVar Variation Id:
1596067
ClinVar RCV Id:
RCV002113158
dbSNP Id:
rs1337708310
gnomAD v2:
7-2579534-A-T
gnomAD v4:
7-2539900-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2539900A>T , CM000669.2:g.2539900A>T | GRCh38 |
| NC_000007.13:g.2579534A>T , CM000669.1:g.2579534A>T | GRCh37 |
| NC_000007.12:g.2546060A>T | NCBI36 |
| NG_032167.1:g.20859T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.1396-12T>A MANE Select | ENSP00000339637.4:n.1396-12T>A | |
| ENST00000340611.8:c.1396-12T>A | ENSP00000339637.4:n.1396-12T>A | |
| ENST00000467558.5:n.2756T>A | ||
| ENST00000469750.5:n.3956T>A | ||
| ENST00000473879.1:n.112-12T>A | ||
| ENST00000493232.5:n.4120T>A | ||
| NM_152743.3:c.1396-12T>A | NP_689956.2:n.1396-12T>A | |
| XM_005249643.3:c.1396-12T>A | XP_005249700.1:n.1396-12T>A | |
| XM_011515177.1:c.1468T>A | XP_011513479.1:p.Tyr490Asn | |
| XM_011515178.1:c.1468T>A | XP_011513480.1:p.Tyr490Asn | |
| XM_011515179.1:c.1465T>A | XP_011513481.1:p.Tyr489Asn | |
| XM_011515180.1:c.1438T>A | XP_011513482.1:p.Tyr480Asn | |
| XM_011515181.1:c.1468T>A | XP_011513483.1:p.Tyr490Asn | |
| XM_011515182.1:c.1468T>A | XP_011513484.1:p.Tyr490Asn | |
| XM_011515183.1:c.943T>A | XP_011513485.1:p.Tyr315Asn | |
| XM_011515184.1:c.943T>A | XP_011513486.1:p.Tyr315Asn | |
| XM_011515185.1:c.1396-12T>A | XP_011513487.1:n.1396-12T>A | |
| XM_011515186.1:c.1468T>A | XP_011513488.1:p.Tyr490Asn | |
| XM_011515187.1:c.52-12T>A | XP_011513489.1:n.52-12T>A | |
| NM_001350626.1:c.1396-12T>A | NP_001337555.1:n.1396-12T>A | |
| NM_001350627.1:c.871-12T>A | NP_001337556.1:n.871-12T>A | |
| NR_146879.1:n.1813-12T>A | ||
| XM_011515177.2:c.1468T>A | XP_011513479.1:p.Tyr490Asn | |
| XM_011515179.2:c.1465T>A | XP_011513481.1:p.Tyr489Asn | |
| XM_011515181.2:c.1468T>A | XP_011513483.1:p.Tyr490Asn | |
| XM_011515182.2:c.1468T>A | XP_011513484.1:p.Tyr490Asn | |
| XM_011515184.3:c.943T>A | XP_011513486.1:p.Tyr315Asn | |
| XM_011515186.2:c.1468T>A | XP_011513488.1:p.Tyr490Asn | |
| XM_017011833.1:c.1393-12T>A | XP_016867322.1:n.1393-12T>A | |
| XM_017011834.1:c.1393-12T>A | XP_016867323.1:n.1393-12T>A | |
| XM_017011836.2:c.1396-12T>A | XP_016867325.1:n.1396-12T>A | |
| XM_024446682.1:c.52-12T>A | XP_024302450.1:n.52-12T>A | |
| NM_152743.4:c.1396-12T>A MANE Select | NP_689956.2:n.1396-12T>A | |
| NM_001350626.2:c.1396-12T>A | NP_001337555.1:n.1396-12T>A | |
| NM_001350627.2:c.871-12T>A | NP_001337556.1:n.871-12T>A | |
| NR_146879.2:n.1579-12T>A |