Linked Data
ClinVar Variation Id:
300047
dbSNP Id:
rs142094044
ExAC:
10:50678525 T / G
gnomAD v2:
10-50678525-T-G
gnomAD v3:
10-49470479-T-G
gnomAD v4:
10-49470479-T-G
COSMIC:
COSM4600488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470479T>G , CM000672.2:g.49470479T>G | GRCh38 |
| NC_000010.10:g.50678525T>G , CM000672.1:g.50678525T>G | GRCh37 |
| NC_000010.9:g.50348531T>G | NCBI36 |
| NG_009442.1:g.73623A>C , LRG_465:g.73623A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3481A>C MANE Select | ENSP00000348089.5:p.Ser1161Arg | |
| ENST00000679552.1:n.552A>C | ||
| ENST00000679871.1:n.627A>C | ||
| ENST00000679974.1:n.530A>C | ||
| ENST00000681632.1:n.4884A>C | ||
| ENST00000681659.1:c.3322A>C | ENSP00000505631.1:p.Ser1108Arg | |
| ENST00000355832.9:c.3481A>C | ENSP00000348089.5:p.Ser1161Arg | |
| ENST00000623073.3:c.*1777A>C | ENSP00000485650.1:n.*1777A>C | |
| ENST00000623115.3:c.1591A>C | ENSP00000485321.1:p.Ser531Arg | |
| ENST00000624341.3:c.1313A>C | ||
| NM_000124.3:c.3481A>C | NP_000115.1:p.Ser1161Arg | |
| XR_945953.1:n.243-1086T>G | ||
| NM_001346440.1:c.3481A>C | NP_001333369.1:p.Ser1161Arg | |
| NM_000124.4:c.3481A>C MANE Select | NP_000115.1:p.Ser1161Arg | |
| NM_001346440.2:c.3481A>C | NP_001333369.1:p.Ser1161Arg |