Linked Data
ClinVar Variation Id:
29648
ClinVar RCV Id:
RCV001804155
dbSNP Id:
rs387906611
PubMed:
PMID:21035103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102989562C>G , CM000663.2:g.102989562C>G | GRCh38 |
| NC_000001.10:g.103455118C>G , CM000663.1:g.103455118C>G | GRCh37 |
| NC_000001.9:g.103227706C>G | NCBI36 |
| NG_008033.1:g.123935G>C | |
| NG_008033.2:g.123935G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370096.9:c.2350G>C MANE Select | ENSP00000359114.3:p.Gly784Arg | |
| ENST00000353414.8:c.2233G>C | ENSP00000302551.6:p.Gly745Arg | |
| ENST00000358392.6:c.2386G>C | ENSP00000351163.2:p.Gly796Arg | |
| ENST00000370096.7:c.2350G>C | ENSP00000359114.3:p.Gly784Arg | |
| ENST00000512756.5:c.2002G>C | ENSP00000426533.1:p.Gly668Arg | |
| ENST00000635193.1:c.1668G>C | ||
| NM_001190709.1:c.2233G>C | NP_001177638.1:p.Gly745Arg | |
| NM_001854.3:c.2350G>C | NP_001845.3:p.Gly784Arg | |
| NM_080629.2:c.2386G>C | NP_542196.2:p.Gly796Arg | |
| NM_080630.3:c.2002G>C | NP_542197.3:p.Gly668Arg | |
| XM_011540719.1:c.2350G>C | XP_011539021.1:p.Gly784Arg | |
| XM_011540720.1:c.583G>C | XP_011539022.1:p.Gly195Arg | |
| XM_011540721.1:c.-79G>C | XP_011539023.1:n.-79G>C | |
| XR_946545.1:n.2748G>C | ||
| NR_134980.1:n.2668G>C | ||
| XM_017000334.1:c.2503G>C | XP_016855823.1:p.Gly835Arg | |
| XM_017000335.1:c.2497G>C | XP_016855824.1:p.Gly833Arg | |
| XM_017000336.1:c.2503G>C | XP_016855825.1:p.Gly835Arg | |
| XM_017000337.1:c.901G>C | XP_016855826.1:p.Gly301Arg | |
| NM_001854.4:c.2350G>C MANE Select | NP_001845.3:p.Gly784Arg | |
| NM_080630.4:c.2002G>C | NP_542197.3:p.Gly668Arg | |
| NR_134980.2:n.2694G>C | ||
| NM_001190709.2:c.2233G>C | NP_001177638.1:p.Gly745Arg | |
| NM_080629.3:c.2386G>C | NP_542196.2:p.Gly796Arg |