Linked Data
ClinVar Variation Id:
161748
ClinVar RCV Id:
RCV000149284
dbSNP Id:
rs193920866
COSMIC:
COSM1179888
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159192730G>C , CM000663.2:g.159192730G>C | GRCh38 |
| NC_000001.10:g.159162520G>C , CM000663.1:g.159162520G>C | GRCh37 |
| NC_000001.9:g.157429144G>C | NCBI36 |
| NG_051933.1:g.26167G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368125.9:c.382G>C MANE Select | ENSP00000357107.4:p.Gly128Arg | |
| ENST00000368124.8:c.484G>C | ENSP00000357106.4:p.Gly162Arg | |
| ENST00000368125.8:c.382G>C | ENSP00000357107.4:p.Gly128Arg | |
| ENST00000416746.1:c.382G>C | ENSP00000387802.1:p.Gly128Arg | |
| NM_001127173.1:c.382G>C | NP_001120645.1:p.Gly128Arg | |
| NM_021189.3:c.484G>C | NP_067012.1:p.Gly162Arg | |
| NM_001127173.2:c.382G>C | NP_001120645.1:p.Gly128Arg | |
| NM_001346510.1:c.382G>C | NP_001333439.1:p.Gly128Arg | |
| NM_021189.4:c.484G>C | NP_067012.1:p.Gly162Arg | |
| XM_024448760.1:c.631G>C | XP_024304528.1:p.Gly211Arg | |
| NM_001127173.3:c.382G>C MANE Select | NP_001120645.1:p.Gly128Arg | |
| NM_001346510.2:c.382G>C | NP_001333439.1:p.Gly128Arg | |
| NM_021189.5:c.484G>C | NP_067012.1:p.Gly162Arg |