Linked Data
ClinVar Variation Id:
190895
dbSNP Id:
rs201454653
ExAC:
11:118007797 G / C
gnomAD v2:
11-118007797-G-C
gnomAD v3:
11-118137082-G-C
gnomAD v4:
11-118137082-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118137082G>C , CM000673.2:g.118137082G>C | GRCh38 |
| NC_000011.9:g.118007797G>C , CM000673.1:g.118007797G>C | GRCh37 |
| NC_000011.8:g.117513007G>C | NCBI36 |
| NG_011710.1:g.20834C>G , LRG_330:g.20834C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.632C>G MANE Select | ENSP00000322460.4:p.Thr211Arg | |
| ENST00000324727.8:c.632C>G | ENSP00000322460.4:p.Thr211Arg | |
| ENST00000415030.6:n.775C>G | ||
| ENST00000423160.2:n.266C>G | ||
| ENST00000529878.1:c.230C>G | ENSP00000436343.1:p.Thr77Arg | |
| ENST00000531550.1:n.697C>G | ||
| NM_001142348.1:c.230C>G | NP_001135820.1:p.Thr77Arg | |
| NM_001142349.1:c.302C>G | NP_001135821.1:p.Thr101Arg | |
| NM_174934.3:c.632C>G , LRG_330t1:c.632C>G | NP_777594.1:p.Thr211Arg | |
| NR_024527.1:n.657C>G | ||
| NM_001142348.2:c.230C>G | NP_001135820.1:p.Thr77Arg | |
| NM_001142349.2:c.302C>G | NP_001135821.1:p.Thr101Arg | |
| NR_024527.2:n.621C>G | ||
| NM_174934.4:c.632C>G MANE Select | NP_777594.1:p.Thr211Arg |