Linked Data
ClinVar Variation Id:
643313
dbSNP Id:
rs780224196
ExAC:
9:135772122 C / G
gnomAD v2:
9-135772122-C-G
gnomAD v4:
9-132896735-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896735C>G , CM000671.2:g.132896735C>G | GRCh38 |
| NC_000009.11:g.135772122C>G , CM000671.1:g.135772122C>G | GRCh37 |
| NC_000009.10:g.134761943C>G | NCBI36 |
| NG_012386.1:g.52899G>C , LRG_486:g.52899G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2992G>C | ENSP00000496126.2:p.Gly998Arg | |
| ENST00000490179.4:c.2995G>C | ENSP00000495533.2:p.Gly999Arg | |
| ENST00000642261.2:c.*851G>C | ENSP00000494743.2:n.*851G>C | |
| ENST00000643275.2:c.*935G>C | ENSP00000495598.2:n.*935G>C | |
| ENST00000643362.2:c.2608G>C | ENSP00000496398.2:p.Gly870Arg | |
| ENST00000643625.2:c.*737G>C | ENSP00000495546.2:n.*737G>C | |
| ENST00000643691.2:c.2632G>C | ENSP00000494916.2:p.Gly878Arg | |
| ENST00000644184.2:c.2953G>C | ENSP00000495428.2:p.Gly985Arg | |
| ENST00000645129.2:c.2839G>C | ENSP00000493639.2:p.Gly947Arg | |
| ENST00000646440.2:c.2995G>C | ENSP00000495830.2:p.Gly999Arg | |
| ENST00000298552.9:c.2995G>C MANE Select | ENSP00000298552.3:p.Gly999Arg | |
| ENST00000642261.1:c.1132G>C | ||
| ENST00000642617.1:c.2992G>C | ENSP00000493773.1:p.Gly998Arg | |
| ENST00000642627.1:c.2977G>C | ENSP00000496772.1:p.Gly993Arg | |
| ENST00000642811.1:c.*2765G>C | ENSP00000495554.1:n.*2765G>C | |
| ENST00000643072.1:c.2842G>C | ENSP00000496691.1:p.Gly948Arg | |
| ENST00000643275.1:c.1469G>C | ENSP00000495598.1:n.1469G>C | |
| ENST00000643583.1:c.2980G>C | ENSP00000494685.1:p.Gly994Arg | |
| ENST00000643625.1:c.872G>C | ENSP00000495546.1:n.872G>C | |
| ENST00000643875.1:c.2995G>C | ENSP00000495158.1:p.Gly999Arg | |
| ENST00000644097.1:c.2992G>C | ENSP00000494682.1:p.Gly998Arg | |
| ENST00000644184.1:c.1690G>C | ENSP00000495428.1:p.Gly564Arg | |
| ENST00000644255.1:c.*2762G>C | ENSP00000493608.1:n.*2762G>C | |
| ENST00000644319.1:n.3370G>C | ||
| ENST00000644786.1:n.654G>C | ||
| ENST00000644882.1:n.1903G>C | ||
| ENST00000645901.1:n.3846G>C | ||
| ENST00000646391.1:c.*2765G>C | ENSP00000494104.1:n.*2765G>C | |
| ENST00000646625.1:c.2995G>C | ENSP00000496263.1:p.Gly999Arg | |
| ENST00000647262.1:n.1960G>C | ||
| ENST00000647279.1:c.*2234G>C | ENSP00000494502.1:n.*2234G>C | |
| ENST00000647534.1:n.2059G>C | ||
| ENST00000298552.7:c.2995G>C | ENSP00000298552.3:p.Gly999Arg | |
| ENST00000440111.6:c.2995G>C | ENSP00000394524.2:p.Gly999Arg | |
| ENST00000545250.5:c.2842G>C | ENSP00000444017.1:p.Gly948Arg | |
| NM_000368.4:c.2995G>C , LRG_486t1:c.2995G>C | NP_000359.1:p.Gly999Arg | |
| NM_001162426.1:c.2992G>C | NP_001155898.1:p.Gly998Arg | |
| NM_001162427.1:c.2842G>C | NP_001155899.1:p.Gly948Arg | |
| XM_005272211.1:c.2995G>C | XP_005272268.1:p.Gly999Arg | |
| XM_006717271.1:c.2995G>C | XP_006717334.1:p.Gly999Arg | |
| XM_011518979.1:c.2995G>C | XP_011517281.1:p.Gly999Arg | |
| NM_001362177.1:c.2632G>C | NP_001349106.1:p.Gly878Arg | |
| XM_011518979.2:c.2995G>C | XP_011517281.1:p.Gly999Arg | |
| XM_017015096.1:c.2995G>C | XP_016870585.1:p.Gly999Arg | |
| XM_017015097.1:c.2995G>C | XP_016870586.1:p.Gly999Arg | |
| XM_017015098.1:c.2992G>C | XP_016870587.1:p.Gly998Arg | |
| XM_017015100.1:c.2632G>C | XP_016870589.1:p.Gly878Arg | |
| XM_017015101.1:c.2629G>C | XP_016870590.1:p.Gly877Arg | |
| NM_000368.5:c.2995G>C MANE Select | NP_000359.1:p.Gly999Arg | |
| NM_001162426.2:c.2992G>C | NP_001155898.1:p.Gly998Arg | |
| NM_001162427.2:c.2842G>C | NP_001155899.1:p.Gly948Arg | |
| NM_001362177.2:c.2632G>C | NP_001349106.1:p.Gly878Arg |