Linked Data
ClinVar Variation Id:
552227
dbSNP Id:
rs137853150
gnomAD v3:
11-68047480-G-C
gnomAD v4:
11-68047480-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047480G>C , CM000673.2:g.68047480G>C | GRCh38 |
| NC_000011.9:g.67814947G>C , CM000673.1:g.67814947G>C | GRCh37 |
| NC_000011.8:g.67571523G>C | NCBI36 |
| NG_007878.1:g.13465G>C , LRG_115:g.13465G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.742G>C | ENSP00000513629.1:p.Gly248Arg | |
| ENST00000698255.1:c.1162G>C | ENSP00000513630.1:p.Gly388Arg | |
| ENST00000698256.1:c.679G>C | ||
| ENST00000698257.1:n.631G>C | ||
| ENST00000698258.1:n.197G>C | ||
| ENST00000698259.1:n.37G>C | ||
| ENST00000265686.8:c.1213G>C MANE Select | ENSP00000265686.3:p.Gly405Arg | |
| ENST00000265686.7:c.1213G>C | ENSP00000265686.3:p.Gly405Arg | |
| ENST00000525516.1:n.7G>C | ||
| ENST00000525724.5:n.525G>C | ||
| ENST00000528981.5:c.365G>C | ||
| ENST00000529364.1:c.624G>C | ||
| ENST00000532635.5:c.565G>C | ENSP00000434407.1:p.Gly189Arg | |
| ENST00000533005.5:n.249G>C | ||
| NM_006019.3:c.1213G>C | NP_006010.2:p.Gly405Arg | |
| NM_006053.3:c.565G>C | NP_006044.1:p.Gly189Arg | |
| XM_005273709.2:c.1213G>C | XP_005273766.1:p.Gly405Arg | |
| XM_011544726.1:c.1213G>C | XP_011543028.1:p.Gly405Arg | |
| XM_011544727.1:c.1213G>C | XP_011543029.1:p.Gly405Arg | |
| XM_011544728.1:c.1213G>C | XP_011543030.1:p.Gly405Arg | |
| XM_011544729.1:c.1229G>C | XP_011543031.1:p.Arg410Pro | |
| XR_949754.1:n.1217G>C | ||
| NM_001351059.1:c.319G>C | NP_001337988.1:p.Gly107Arg | |
| XM_024448320.1:c.1229G>C | XP_024304088.1:p.Arg410Pro | |
| XM_024448321.1:c.1229G>C | XP_024304089.1:p.Arg410Pro | |
| XM_024448322.1:c.1229G>C | XP_024304090.1:p.Arg410Pro | |
| XM_024448323.1:c.1229G>C | XP_024304091.1:p.Arg410Pro | |
| XM_024448324.1:c.1229G>C | XP_024304092.1:p.Arg410Pro | |
| XR_001747721.2:n.1337G>C | ||
| XR_001747722.1:n.1350G>C | ||
| XR_001747723.2:n.1350G>C | ||
| XR_002957115.1:n.1351G>C | ||
| NM_006019.4:c.1213G>C MANE Select | NP_006010.2:p.Gly405Arg | |
| NM_001351059.2:c.319G>C | NP_001337988.1:p.Gly107Arg | |
| NM_006053.4:c.565G>C | NP_006044.1:p.Gly189Arg |