Linked Data
ClinVar Variation Id:
222748
dbSNP Id:
rs201983087
ExAC:
10:69881952 G / C
gnomAD v2:
10-69881952-G-C
gnomAD v3:
10-68122195-G-C
gnomAD v4:
10-68122195-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68122195G>C , CM000672.2:g.68122195G>C | GRCh38 |
| NC_000010.10:g.69881952G>C , CM000672.1:g.69881952G>C | GRCh37 |
| NC_000010.9:g.69551958G>C | NCBI36 |
| NG_032118.1:g.21079G>C , LRG_410:g.21079G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.77+15394G>C | ENSP00000346369.2:n.77+15394G>C | |
| ENST00000373675.4:c.757G>C | ENSP00000362779.4:p.Gly253Arg | |
| ENST00000540630.6:c.757G>C | ENSP00000441668.3:p.Gly253Arg | |
| ENST00000613327.5:c.757G>C | ENSP00000480757.2:p.Gly253Arg | |
| ENST00000685006.1:c.829G>C | ENSP00000510318.1:p.Gly277Arg | |
| ENST00000685060.1:n.994G>C | ||
| ENST00000685154.1:c.757G>C | ENSP00000509251.1:p.Gly253Arg | |
| ENST00000685627.1:c.*768G>C | ENSP00000508637.1:n.*768G>C | |
| ENST00000686289.1:n.113+16012G>C | ||
| ENST00000687572.1:c.-221+16012G>C | ENSP00000510427.1:n.-221+16012G>C | |
| ENST00000687705.1:c.*1006G>C | ENSP00000509639.1:n.*1006G>C | |
| ENST00000688812.1:c.757G>C | ENSP00000510658.1:p.Gly253Arg | |
| ENST00000689218.1:n.986G>C | ||
| ENST00000689484.1:c.-220-20745G>C | ENSP00000509884.1:n.-220-20745G>C | |
| ENST00000689797.1:c.-220-20745G>C | ENSP00000510689.1:n.-220-20745G>C | |
| ENST00000690544.1:c.757G>C | ENSP00000508989.1:p.Gly253Arg | |
| ENST00000692038.1:c.*1006G>C | ENSP00000509220.1:n.*1006G>C | |
| ENST00000692953.1:n.62+16012G>C | ||
| ENST00000692979.1:c.757G>C | ENSP00000509849.1:p.Gly253Arg | |
| ENST00000358913.10:c.757G>C MANE Select | ENSP00000351790.5:p.Gly253Arg | |
| ENST00000354393.6:c.77+15394G>C | ENSP00000346369.2:n.77+15394G>C | |
| ENST00000358913.9:c.757G>C | ENSP00000351790.5:p.Gly253Arg | |
| ENST00000373675.3:c.757G>C | ENSP00000362779.3:p.Gly253Arg | |
| ENST00000540630.5:c.757G>C | ENSP00000441668.2:p.Gly253Arg | |
| ENST00000613327.4:c.-366G>C | ENSP00000480757.1:n.-366G>C | |
| NM_001256267.1:c.757G>C | NP_001243196.1:p.Gly253Arg | |
| NM_001256268.1:c.-366G>C | NP_001243197.1:n.-366G>C | |
| NM_032578.3:c.757G>C , LRG_410t1:c.757G>C | NP_115967.2:p.Gly253Arg | |
| NR_045662.3:n.329+15394G>C | ||
| NR_045663.3:n.1049G>C | ||
| XM_006718043.2:c.757G>C | XP_006718106.1:p.Gly253Arg | |
| XM_011540292.1:c.757G>C | XP_011538594.1:p.Gly253Arg | |
| XM_017016833.1:c.835G>C | XP_016872322.1:p.Gly279Arg | |
| XM_017016834.2:c.757G>C | XP_016872323.1:p.Gly253Arg | |
| XM_024448236.1:c.-221+16012G>C | XP_024304004.1:n.-221+16012G>C | |
| NR_045662.4:n.439+15394G>C | ||
| NR_045663.4:n.994G>C | ||
| NM_001256267.2:c.757G>C | NP_001243196.1:p.Gly253Arg | |
| NM_001256268.2:c.-366G>C | NP_001243197.1:n.-366G>C | |
| NM_032578.4:c.757G>C MANE Select | NP_115967.2:p.Gly253Arg |