Linked Data
ClinVar Variation Id:
161654
ClinVar RCV Id:
RCV000149190
dbSNP Id:
rs193920899
COSMIC:
COSM1180039
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88550324T>G , CM000676.2:g.88550324T>G | GRCh38 |
| NC_000014.8:g.89016668T>G , CM000676.1:g.89016668T>G | GRCh37 |
| NC_000014.7:g.88086421T>G | NCBI36 |
| NG_046949.1:g.9456A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556564.6:c.94A>C MANE Select | ENSP00000452414.1:p.Asn32His | |
| ENST00000328736.7:c.94A>C | ENSP00000330276.3:p.Asn32His | |
| ENST00000536337.5:c.94A>C | ENSP00000443951.1:p.Asn32His | |
| ENST00000554178.1:n.296A>C | ||
| ENST00000554270.5:n.207A>C | ||
| ENST00000554628.5:n.474A>C | ||
| ENST00000555243.1:c.94A>C | ENSP00000451401.1:p.Asn32His | |
| ENST00000556564.5:c.94A>C | ENSP00000452414.1:p.Asn32His | |
| NM_007039.3:c.94A>C | NP_008970.2:p.Asn32His | |
| XM_005267287.1:c.94A>C | XP_005267344.1:p.Asn32His | |
| XM_006720011.2:c.-178A>C | XP_006720074.1:n.-178A>C | |
| XM_011536367.1:c.94A>C | XP_011534669.1:p.Asn32His | |
| XM_011536369.1:c.-642A>C | XP_011534671.1:n.-642A>C | |
| XM_005267287.3:c.94A>C | XP_005267344.1:p.Asn32His | |
| XM_006720011.3:c.-178A>C | XP_006720074.1:n.-178A>C | |
| XM_011536367.3:c.94A>C | XP_011534669.1:p.Asn32His | |
| XM_011536369.2:c.-642A>C | XP_011534671.1:n.-642A>C | |
| XM_017020938.2:c.-178A>C | XP_016876427.1:n.-178A>C | |
| NM_007039.4:c.94A>C MANE Select | NP_008970.2:p.Asn32His |