Linked Data
ClinVar Variation Id:
45499
dbSNP Id:
rs137973321
ExAC:
10:21157673 C / T
gnomAD v2:
10-21157673-C-T
gnomAD v3:
10-20868744-C-T
gnomAD v4:
10-20868744-C-T
COSMIC:
COSM1135000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20868744C>T , CM000672.2:g.20868744C>T | GRCh38 |
| NC_000010.10:g.21157673C>T , CM000672.1:g.21157673C>T | GRCh37 |
| NC_000010.9:g.21197679C>T | NCBI36 |
| NG_017092.1:g.310444G>A , LRG_411:g.310444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.604G>A MANE Select | ENSP00000366326.4:p.Gly202Arg | |
| ENST00000674540.1:n.891G>A | ||
| ENST00000675114.1:n.566-55804G>A | ||
| ENST00000675700.1:n.381-55804G>A | ||
| ENST00000675702.1:n.637-55804G>A | ||
| ENST00000675747.1:n.2966G>A | ||
| ENST00000377119.5:n.614G>A | ||
| ENST00000377122.8:c.604G>A | ENSP00000366326.4:p.Gly202Arg | |
| ENST00000417816.2:c.358-55804G>A | ENSP00000393896.2:n.358-55804G>A | |
| NM_001173484.1:c.358-55804G>A | NP_001166955.1:n.358-55804G>A | |
| NM_006393.2:c.604G>A , LRG_411t2:c.604G>A | NP_006384.1:p.Gly202Arg | |
| NM_213569.2:c.358-55804G>A , LRG_411t1:c.358-55804G>A | NP_998734.1:n.358-55804G>A | |
| XM_005252342.3:c.502G>A | XP_005252399.1:p.Gly168Arg | |
| XM_005252343.3:c.604G>A | XP_005252400.1:p.Gly202Arg | |
| XM_005252344.3:c.604G>A | XP_005252401.1:p.Gly202Arg | |
| XM_011519290.1:c.556G>A | XP_011517592.1:p.Gly186Arg | |
| XM_011519291.1:c.556G>A | XP_011517593.1:p.Gly186Arg | |
| XR_242691.3:n.716G>A | ||
| XR_930736.1:n.706+3277C>T | ||
| XR_930737.1:n.706+3277C>T | ||
| XR_930738.1:n.706+3277C>T | ||
| XR_930739.1:n.565+3277C>T | ||
| XR_930740.1:n.600+3277C>T | ||
| XM_005252342.5:c.502G>A | XP_005252399.1:p.Gly168Arg | |
| XM_005252343.5:c.604G>A | XP_005252400.1:p.Gly202Arg | |
| XM_005252344.5:c.604G>A | XP_005252401.1:p.Gly202Arg | |
| XM_011519291.2:c.556G>A | XP_011517593.1:p.Gly186Arg | |
| XM_017015468.1:c.556G>A | XP_016870957.1:p.Gly186Arg | |
| XR_001746995.2:n.2200G>A | ||
| XR_001746996.1:n.919G>A | ||
| XR_001747385.2:n.706+3277C>T | ||
| XR_001747386.2:n.706+3277C>T | ||
| XR_242691.5:n.2200G>A | ||
| XR_930736.3:n.706+3277C>T | ||
| XR_930737.3:n.706+3277C>T | ||
| XR_930739.3:n.565+3277C>T | ||
| XR_930740.3:n.600+3277C>T | ||
| NM_001173484.2:c.358-55804G>A | NP_001166955.1:n.358-55804G>A | |
| NM_001377322.1:c.358-55804G>A | NP_001364251.1:n.358-55804G>A | |
| NM_001377323.1:c.310-55804G>A | NP_001364252.1:n.310-55804G>A | |
| NM_001377324.1:c.301-55804G>A | NP_001364253.1:n.301-55804G>A | |
| NM_001377325.1:c.292-55804G>A | NP_001364254.1:n.292-55804G>A | |
| NM_001377326.1:c.250-55804G>A | NP_001364255.1:n.250-55804G>A | |
| NM_001377327.1:c.250-55804G>A | NP_001364256.1:n.250-55804G>A | |
| NM_001377328.1:c.250-55804G>A | NP_001364257.1:n.250-55804G>A | |
| NM_006393.3:c.604G>A MANE Select | NP_006384.1:p.Gly202Arg |