Linked Data
ClinVar Variation Id:
2196502
ClinVar RCV Id:
RCV002633718
dbSNP Id:
rs752652217
ExAC:
7:2579455 G / A
gnomAD v2:
7-2579455-G-A
gnomAD v3:
7-2539821-G-A
gnomAD v4:
7-2539821-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2539821G>A , CM000669.2:g.2539821G>A | GRCh38 |
| NC_000007.13:g.2579455G>A , CM000669.1:g.2579455G>A | GRCh37 |
| NC_000007.12:g.2545981G>A | NCBI36 |
| NG_032167.1:g.20938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.1463C>T MANE Select | ENSP00000339637.4:p.Ser488Phe | |
| ENST00000340611.8:c.1463C>T | ENSP00000339637.4:p.Ser488Phe | |
| ENST00000467558.5:n.2835C>T | ||
| ENST00000469750.5:n.4035C>T | ||
| ENST00000473879.1:n.179C>T | ||
| ENST00000493232.5:n.4199C>T | ||
| NM_152743.3:c.1463C>T | NP_689956.2:p.Ser488Phe | |
| XM_005249643.3:c.1463C>T | XP_005249700.1:p.Ser488Phe | |
| XM_011515177.1:c.1547C>T | XP_011513479.1:p.Ser516Phe | |
| XM_011515178.1:c.1547C>T | XP_011513480.1:p.Ser516Phe | |
| XM_011515179.1:c.1544C>T | XP_011513481.1:p.Ser515Phe | |
| XM_011515180.1:c.1517C>T | XP_011513482.1:p.Ser506Phe | |
| XM_011515181.1:c.1547C>T | XP_011513483.1:p.Ser516Phe | |
| XM_011515182.1:c.1547C>T | XP_011513484.1:p.Ser516Phe | |
| XM_011515183.1:c.1022C>T | XP_011513485.1:p.Ser341Phe | |
| XM_011515184.1:c.1022C>T | XP_011513486.1:p.Ser341Phe | |
| XM_011515185.1:c.1463C>T | XP_011513487.1:p.Ser488Phe | |
| XM_011515186.1:c.1547C>T | XP_011513488.1:p.Ser516Phe | |
| XM_011515187.1:c.119C>T | XP_011513489.1:p.Ser40Phe | |
| NM_001350626.1:c.1463C>T | NP_001337555.1:p.Ser488Phe | |
| NM_001350627.1:c.938C>T | NP_001337556.1:p.Ser313Phe | |
| NR_146879.1:n.1880C>T | ||
| XM_011515177.2:c.1547C>T | XP_011513479.1:p.Ser516Phe | |
| XM_011515179.2:c.1544C>T | XP_011513481.1:p.Ser515Phe | |
| XM_011515181.2:c.1547C>T | XP_011513483.1:p.Ser516Phe | |
| XM_011515182.2:c.1547C>T | XP_011513484.1:p.Ser516Phe | |
| XM_011515184.3:c.1022C>T | XP_011513486.1:p.Ser341Phe | |
| XM_011515186.2:c.1547C>T | XP_011513488.1:p.Ser516Phe | |
| XM_017011833.1:c.1460C>T | XP_016867322.1:p.Ser487Phe | |
| XM_017011834.1:c.1460C>T | XP_016867323.1:p.Ser487Phe | |
| XM_017011836.2:c.1463C>T | XP_016867325.1:p.Ser488Phe | |
| XM_024446682.1:c.119C>T | XP_024302450.1:p.Ser40Phe | |
| NM_152743.4:c.1463C>T MANE Select | NP_689956.2:p.Ser488Phe | |
| NM_001350626.2:c.1463C>T | NP_001337555.1:p.Ser488Phe | |
| NM_001350627.2:c.938C>T | NP_001337556.1:p.Ser313Phe | |
| NR_146879.2:n.1646C>T |