Linked Data
ClinVar Variation Id:
190173
dbSNP Id:
rs745352643
ExAC:
10:50667157 T / C
gnomAD v2:
10-50667157-T-C
gnomAD v4:
10-49459111-T-C
COSMIC:
COSM6129593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49459111T>C , CM000672.2:g.49459111T>C | GRCh38 |
| NC_000010.10:g.50667157T>C , CM000672.1:g.50667157T>C | GRCh37 |
| NC_000010.9:g.50337163T>C | NCBI36 |
| NG_009442.1:g.84991A>G , LRG_465:g.84991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.4186A>G MANE Select | ENSP00000348089.5:p.Arg1396Gly | |
| ENST00000679552.1:n.2395A>G | ||
| ENST00000679871.1:n.1332A>G | ||
| ENST00000679974.1:n.1235A>G | ||
| ENST00000681632.1:n.5589A>G | ||
| ENST00000681659.1:c.4027A>G | ENSP00000505631.1:p.Arg1343Gly | |
| ENST00000355832.9:c.4186A>G | ENSP00000348089.5:p.Arg1396Gly | |
| ENST00000623073.3:c.*2482A>G | ENSP00000485650.1:n.*2482A>G | |
| ENST00000623115.3:c.2296A>G | ENSP00000485321.1:p.Arg766Gly | |
| ENST00000624341.3:c.2018A>G | ||
| NM_000124.3:c.4186A>G | NP_000115.1:p.Arg1396Gly | |
| XR_945953.1:n.243-12454T>C | ||
| NM_001346440.1:c.4186A>G | NP_001333369.1:p.Arg1396Gly | |
| NM_000124.4:c.4186A>G MANE Select | NP_000115.1:p.Arg1396Gly | |
| NM_001346440.2:c.4186A>G | NP_001333369.1:p.Arg1396Gly |