Linked Data
ClinVar Variation Id:
765260
ClinVar RCV Id:
RCV000943663
dbSNP Id:
rs932050999
gnomAD v2:
7-2577793-G-A
gnomAD v3:
7-2538159-G-A
gnomAD v4:
7-2538159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2538159G>A , CM000669.2:g.2538159G>A | GRCh38 |
| NC_000007.13:g.2577793G>A , CM000669.1:g.2577793G>A | GRCh37 |
| NC_000007.12:g.2544319G>A | NCBI36 |
| NG_032167.1:g.22600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.2376C>T MANE Select | ENSP00000339637.4:p.Ser792= | |
| ENST00000340611.8:c.2376C>T | ENSP00000339637.4:p.Ser792= | |
| ENST00000467558.5:n.4162C>T | ||
| ENST00000469750.5:n.4948C>T | ||
| ENST00000493232.5:n.5082C>T | ||
| NM_152743.3:c.2376C>T | NP_689956.2:p.Ser792= | |
| XM_005249643.3:c.2556C>T | XP_005249700.1:p.Ser852= | |
| XM_011515177.1:c.2640C>T | XP_011513479.1:p.Ser880= | |
| XM_011515178.1:c.2640C>T | XP_011513480.1:p.Ser880= | |
| XM_011515179.1:c.2637C>T | XP_011513481.1:p.Ser879= | |
| XM_011515180.1:c.2610C>T | XP_011513482.1:p.Ser870= | |
| XM_011515181.1:c.2460C>T | XP_011513483.1:p.Ser820= | |
| XM_011515182.1:c.2640C>T | XP_011513484.1:p.Ser880= | |
| XM_011515183.1:c.2115C>T | XP_011513485.1:p.Ser705= | |
| XM_011515184.1:c.2115C>T | XP_011513486.1:p.Ser705= | |
| XM_011515185.1:c.2376C>T | XP_011513487.1:p.Ser792= | |
| XM_011515187.1:c.1212C>T | XP_011513489.1:p.Ser404= | |
| NM_001350626.1:c.2556C>T | NP_001337555.1:p.Ser852= | |
| NM_001350627.1:c.1851C>T | NP_001337556.1:p.Ser617= | |
| NR_146879.1:n.2793C>T | ||
| XM_011515177.2:c.2640C>T | XP_011513479.1:p.Ser880= | |
| XM_011515179.2:c.2637C>T | XP_011513481.1:p.Ser879= | |
| XM_011515181.2:c.2460C>T | XP_011513483.1:p.Ser820= | |
| XM_011515182.2:c.2640C>T | XP_011513484.1:p.Ser880= | |
| XM_011515184.3:c.2115C>T | XP_011513486.1:p.Ser705= | |
| XM_011515186.2:c.*523C>T | XP_011513488.1:n.*523C>T | |
| XM_017011833.1:c.2553C>T | XP_016867322.1:p.Ser851= | |
| XM_017011834.1:c.2373C>T | XP_016867323.1:p.Ser791= | |
| XM_017011836.2:c.*523C>T | XP_016867325.1:n.*523C>T | |
| XM_024446682.1:c.1212C>T | XP_024302450.1:p.Ser404= | |
| NM_152743.4:c.2376C>T MANE Select | NP_689956.2:p.Ser792= | |
| NM_001350626.2:c.2556C>T | NP_001337555.1:p.Ser852= | |
| NM_001350627.2:c.1851C>T | NP_001337556.1:p.Ser617= | |
| NR_146879.2:n.2559C>T |