Linked Data
ClinVar Variation Id:
2990346
ClinVar RCV Id:
RCV003845041
dbSNP Id:
rs1342440124
gnomAD v2:
7-2577835-G-T
gnomAD v3:
7-2538201-G-T
gnomAD v4:
7-2538201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2538201G>T , CM000669.2:g.2538201G>T | GRCh38 |
| NC_000007.13:g.2577835G>T , CM000669.1:g.2577835G>T | GRCh37 |
| NC_000007.12:g.2544361G>T | NCBI36 |
| NG_032167.1:g.22558C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.2334C>A MANE Select | ENSP00000339637.4:p.Ser778= | |
| ENST00000340611.8:c.2334C>A | ENSP00000339637.4:p.Ser778= | |
| ENST00000467558.5:n.4120C>A | ||
| ENST00000469750.5:n.4906C>A | ||
| ENST00000493232.5:n.5040C>A | ||
| NM_152743.3:c.2334C>A | NP_689956.2:p.Ser778= | |
| XM_005249643.3:c.2514C>A | XP_005249700.1:p.Ser838= | |
| XM_011515177.1:c.2598C>A | XP_011513479.1:p.Ser866= | |
| XM_011515178.1:c.2598C>A | XP_011513480.1:p.Ser866= | |
| XM_011515179.1:c.2595C>A | XP_011513481.1:p.Ser865= | |
| XM_011515180.1:c.2568C>A | XP_011513482.1:p.Ser856= | |
| XM_011515181.1:c.2418C>A | XP_011513483.1:p.Ser806= | |
| XM_011515182.1:c.2598C>A | XP_011513484.1:p.Ser866= | |
| XM_011515183.1:c.2073C>A | XP_011513485.1:p.Ser691= | |
| XM_011515184.1:c.2073C>A | XP_011513486.1:p.Ser691= | |
| XM_011515185.1:c.2334C>A | XP_011513487.1:p.Ser778= | |
| XM_011515187.1:c.1170C>A | XP_011513489.1:p.Ser390= | |
| NM_001350626.1:c.2514C>A | NP_001337555.1:p.Ser838= | |
| NM_001350627.1:c.1809C>A | NP_001337556.1:p.Ser603= | |
| NR_146879.1:n.2751C>A | ||
| XM_011515177.2:c.2598C>A | XP_011513479.1:p.Ser866= | |
| XM_011515179.2:c.2595C>A | XP_011513481.1:p.Ser865= | |
| XM_011515181.2:c.2418C>A | XP_011513483.1:p.Ser806= | |
| XM_011515182.2:c.2598C>A | XP_011513484.1:p.Ser866= | |
| XM_011515184.3:c.2073C>A | XP_011513486.1:p.Ser691= | |
| XM_011515186.2:c.*481C>A | XP_011513488.1:n.*481C>A | |
| XM_017011833.1:c.2511C>A | XP_016867322.1:p.Ser837= | |
| XM_017011834.1:c.2331C>A | XP_016867323.1:p.Ser777= | |
| XM_017011836.2:c.*481C>A | XP_016867325.1:n.*481C>A | |
| XM_024446682.1:c.1170C>A | XP_024302450.1:p.Ser390= | |
| NM_152743.4:c.2334C>A MANE Select | NP_689956.2:p.Ser778= | |
| NM_001350626.2:c.2514C>A | NP_001337555.1:p.Ser838= | |
| NM_001350627.2:c.1809C>A | NP_001337556.1:p.Ser603= | |
| NR_146879.2:n.2517C>A |