Linked Data
ClinVar Variation Id:
1916688
ClinVar RCV Id:
RCV002590616
dbSNP Id:
rs975996696
gnomAD v2:
7-2577945-T-G
gnomAD v3:
7-2538311-T-G
gnomAD v4:
7-2538311-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2538311T>G , CM000669.2:g.2538311T>G | GRCh38 |
| NC_000007.13:g.2577945T>G , CM000669.1:g.2577945T>G | GRCh37 |
| NC_000007.12:g.2544471T>G | NCBI36 |
| NG_032167.1:g.22448A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.2224A>C MANE Select | ENSP00000339637.4:p.Ser742Arg | |
| ENST00000340611.8:c.2224A>C | ENSP00000339637.4:p.Ser742Arg | |
| ENST00000467558.5:n.4010A>C | ||
| ENST00000469750.5:n.4796A>C | ||
| ENST00000493232.5:n.4930A>C | ||
| NM_152743.3:c.2224A>C | NP_689956.2:p.Ser742Arg | |
| XM_005249643.3:c.2404A>C | XP_005249700.1:p.Ser802Arg | |
| XM_011515177.1:c.2488A>C | XP_011513479.1:p.Ser830Arg | |
| XM_011515178.1:c.2488A>C | XP_011513480.1:p.Ser830Arg | |
| XM_011515179.1:c.2485A>C | XP_011513481.1:p.Ser829Arg | |
| XM_011515180.1:c.2458A>C | XP_011513482.1:p.Ser820Arg | |
| XM_011515181.1:c.2308A>C | XP_011513483.1:p.Ser770Arg | |
| XM_011515182.1:c.2488A>C | XP_011513484.1:p.Ser830Arg | |
| XM_011515183.1:c.1963A>C | XP_011513485.1:p.Ser655Arg | |
| XM_011515184.1:c.1963A>C | XP_011513486.1:p.Ser655Arg | |
| XM_011515185.1:c.2224A>C | XP_011513487.1:p.Ser742Arg | |
| XM_011515187.1:c.1060A>C | XP_011513489.1:p.Ser354Arg | |
| NM_001350626.1:c.2404A>C | NP_001337555.1:p.Ser802Arg | |
| NM_001350627.1:c.1699A>C | NP_001337556.1:p.Ser567Arg | |
| NR_146879.1:n.2641A>C | ||
| XM_011515177.2:c.2488A>C | XP_011513479.1:p.Ser830Arg | |
| XM_011515179.2:c.2485A>C | XP_011513481.1:p.Ser829Arg | |
| XM_011515181.2:c.2308A>C | XP_011513483.1:p.Ser770Arg | |
| XM_011515182.2:c.2488A>C | XP_011513484.1:p.Ser830Arg | |
| XM_011515184.3:c.1963A>C | XP_011513486.1:p.Ser655Arg | |
| XM_011515186.2:c.*371A>C | XP_011513488.1:n.*371A>C | |
| XM_017011833.1:c.2401A>C | XP_016867322.1:p.Ser801Arg | |
| XM_017011834.1:c.2221A>C | XP_016867323.1:p.Ser741Arg | |
| XM_017011836.2:c.*371A>C | XP_016867325.1:n.*371A>C | |
| XM_024446682.1:c.1060A>C | XP_024302450.1:p.Ser354Arg | |
| NM_152743.4:c.2224A>C MANE Select | NP_689956.2:p.Ser742Arg | |
| NM_001350626.2:c.2404A>C | NP_001337555.1:p.Ser802Arg | |
| NM_001350627.2:c.1699A>C | NP_001337556.1:p.Ser567Arg | |
| NR_146879.2:n.2407A>C |