Linked Data
ClinVar Variation Id:
519813
dbSNP Id:
rs149733159
ExAC:
5:127704962 C / G
gnomAD v2:
5-127704962-C-G
gnomAD v3:
5-128369269-C-G
gnomAD v4:
5-128369269-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128369269C>G , CM000667.2:g.128369269C>G | GRCh38 |
| NC_000005.9:g.127704962C>G , CM000667.1:g.127704962C>G | GRCh37 |
| NC_000005.8:g.127732861C>G | NCBI36 |
| NG_008750.1:g.173774G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2161G>C MANE Select | ENSP00000262464.4:p.Gly721Arg | |
| ENST00000262464.8:c.2161G>C | ENSP00000262464.4:p.Gly721Arg | |
| ENST00000508053.5:c.2161G>C | ENSP00000424571.1:p.Gly721Arg | |
| ENST00000508989.5:c.2062G>C | ENSP00000425596.1:p.Gly688Arg | |
| ENST00000511489.1:n.382G>C | ||
| ENST00000619499.4:c.2158G>C | ENSP00000482132.1:p.Gly720Arg | |
| NM_001999.3:c.2161G>C | NP_001990.2:p.Gly721Arg | |
| XM_017009228.2:c.2008G>C | XP_016864717.1:p.Gly670Arg | |
| NM_001999.4:c.2161G>C MANE Select | NP_001990.2:p.Gly721Arg |