Linked Data
ClinVar Variation Id:
2419641
ClinVar RCV Id:
RCV003115526
dbSNP Id:
rs1165492597
gnomAD v2:
2-200320653-C-G
gnomAD v4:
2-199455930-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199455930C>G , CM000664.2:g.199455930C>G | GRCh38 |
| NC_000002.11:g.200320653C>G , CM000664.1:g.200320653C>G | GRCh37 |
| NC_000002.10:g.200028898C>G | NCBI36 |
| NG_016976.1:g.20337G>C | |
| NG_016976.2:g.20337G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428695.6:c.108G>C | ENSP00000388581.1:p.Gln36His | |
| ENST00000700191.1:c.108G>C | ENSP00000514853.1:p.Gln36His | |
| ENST00000700193.1:c.108G>C | ENSP00000514854.1:p.Gln36His | |
| ENST00000700194.1:n.366G>C | ||
| ENST00000700208.1:c.108G>C | ENSP00000514860.1:p.Gln36His | |
| ENST00000417098.6:c.108G>C MANE Select | ENSP00000401112.1:p.Gln36His | |
| ENST00000260926.9:c.108G>C | ENSP00000260926.5:p.Gln36His | |
| ENST00000417098.5:c.108G>C | ENSP00000401112.1:p.Gln36His | |
| ENST00000428695.5:c.108G>C | ENSP00000388581.1:p.Gln36His | |
| ENST00000440919.1:c.108G>C | ENSP00000415610.1:p.Gln36His | |
| ENST00000443023.5:c.108G>C | ENSP00000388764.1:p.Gln36His | |
| ENST00000457245.5:c.108G>C | ENSP00000405420.1:p.Gln36His | |
| ENST00000614512.4:c.108G>C | ENSP00000483287.1:p.Gln36His | |
| NM_001172509.1:c.108G>C | NP_001165980.1:p.Gln36His | |
| NM_001172517.1:c.108G>C | NP_001165988.1:p.Gln36His | |
| NM_015265.3:c.108G>C | NP_056080.1:p.Gln36His | |
| XM_005246396.1:c.-6+4522G>C | XP_005246453.1:n.-6+4522G>C | |
| XM_006712372.1:c.108G>C | XP_006712435.1:p.Gln36His | |
| XM_011510840.1:c.108G>C | XP_011509142.1:p.Gln36His | |
| NR_134967.1:n.925G>C | ||
| XM_005246396.3:c.-6+4522G>C | XP_005246453.1:n.-6+4522G>C | |
| XM_011510840.3:c.108G>C | XP_011509142.1:p.Gln36His | |
| XM_017003656.1:c.-6+4522G>C | XP_016859145.1:n.-6+4522G>C | |
| NM_001172509.2:c.108G>C MANE Select | NP_001165980.1:p.Gln36His | |
| NM_015265.4:c.108G>C | NP_056080.1:p.Gln36His | |
| NR_134967.2:n.768G>C |