Linked Data
ClinVar Variation Id:
1035442
dbSNP Id:
rs767451635
ExAC:
10:112572051 G / C
gnomAD v2:
10-112572051-G-C
gnomAD v4:
10-110812293-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812293G>C , CM000672.2:g.110812293G>C | GRCh38 |
| NC_000010.10:g.112572051G>C , CM000672.1:g.112572051G>C | GRCh37 |
| NC_000010.9:g.112562041G>C | NCBI36 |
| NG_021177.1:g.172897G>C , LRG_382:g.172897G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1896G>C MANE Select | ENSP00000358532.3:p.Arg632Ser | |
| ENST00000369519.3:c.1896G>C | ENSP00000358532.3:p.Arg632Ser | |
| NM_001134363.2:c.1896G>C | NP_001127835.2:p.Arg632Ser | |
| XM_011539697.1:c.1512G>C | XP_011537999.1:p.Arg504Ser | |
| XM_017016103.2:c.1731G>C | XP_016871592.1:p.Arg577Ser | |
| XM_017016104.2:c.1512G>C | XP_016871593.1:p.Arg504Ser | |
| NM_001134363.3:c.1896G>C MANE Select | NP_001127835.2:p.Arg632Ser |