Linked Data
ClinVar Variation Id:
21540
ClinVar RCV Id:
RCV000020730
dbSNP Id:
rs113993995
gnomAD v3:
7-66993299-C-G
gnomAD v4:
7-66993299-C-G
PubMed:
PMID:20301722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993299C>G , CM000669.2:g.66993299C>G | GRCh38 |
| NC_000007.13:g.66458286C>G , CM000669.1:g.66458286C>G | GRCh37 |
| NC_000007.12:g.66095721C>G | NCBI36 |
| NG_007277.1:g.7303G>C , LRG_104:g.7303G>C | |
| NG_033069.1:g.1495C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.*108G>C | ENSP00000394586.1:n.*108G>C | |
| ENST00000697860.1:n.344G>C | ||
| ENST00000697861.1:c.258+913G>C | ENSP00000513460.1:n.258+913G>C | |
| ENST00000697862.1:c.377G>C | ENSP00000513461.1:p.Arg126Thr | |
| ENST00000697863.1:c.320G>C | ENSP00000513462.1:p.Arg107Thr | |
| ENST00000697864.1:n.1521G>C | ||
| ENST00000697865.1:c.320G>C | ENSP00000513463.1:p.Arg107Thr | |
| ENST00000697866.1:c.59G>C | ENSP00000513464.1:p.Arg20Thr | |
| ENST00000697867.1:c.217G>C | ||
| ENST00000697868.1:c.*141G>C | ENSP00000513466.1:n.*141G>C | |
| ENST00000697869.1:c.*112G>C | ENSP00000513467.1:n.*112G>C | |
| ENST00000697897.1:c.377G>C | ENSP00000513469.1:p.Arg126Thr | |
| ENST00000246868.7:c.377G>C MANE Select | ENSP00000246868.2:p.Arg126Thr | |
| ENST00000246868.6:c.377G>C | ENSP00000246868.2:p.Arg126Thr | |
| ENST00000414306.5:c.*108G>C | ENSP00000394586.1:n.*108G>C | |
| ENST00000463579.1:n.266G>C | ||
| ENST00000490953.5:n.518G>C | ||
| ENST00000617799.1:c.377G>C | ENSP00000483040.1:p.Arg126Thr | |
| NM_016038.2:c.377G>C , LRG_104t1:c.377G>C | NP_057122.2:p.Arg126Thr | |
| NM_016038.3:c.377G>C | NP_057122.2:p.Arg126Thr | |
| NM_016038.4:c.377G>C MANE Select | NP_057122.2:p.Arg126Thr |