Linked Data
ClinVar Variation Id:
4170
ClinVar RCV Id:
RCV002227988
dbSNP Id:
rs121907889
ExAC:
6:42930887 C / A
gnomAD v2:
6-42930887-C-A
gnomAD v3:
6-42963149-C-A
gnomAD v4:
6-42963149-C-A
PubMed:
PMID:11810299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42963149C>A , CM000668.2:g.42963149C>A | GRCh38 |
| NC_000006.11:g.42930887C>A , CM000668.1:g.42930887C>A | GRCh37 |
| NC_000006.10:g.43038865C>A | NCBI36 |
| NG_008370.1:g.21095G>T | |
| NG_008396.1:g.7388C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372808.4:c.529C>A MANE Select | ENSP00000361894.3:p.His177Asn | |
| ENST00000372808.3:c.529C>A | ENSP00000361894.3:p.His177Asn | |
| NM_018960.4:c.529C>A | NP_061833.1:p.His177Asn | |
| XM_011514493.1:c.310C>A | XP_011512795.1:p.His104Asn | |
| XM_011514494.1:c.310C>A | XP_011512796.1:p.His104Asn | |
| NM_001318856.1:c.331C>A | NP_001305785.1:p.His111Asn | |
| NM_001318857.1:c.346C>A | NP_001305786.1:p.His116Asn | |
| NM_001318858.1:c.269-31C>A | NP_001305787.1:n.269-31C>A | |
| NM_001318865.1:c.472C>A | NP_001305794.1:p.His158Asn | |
| NM_018960.5:c.529C>A | NP_061833.1:p.His177Asn | |
| NR_134890.1:n.807-179C>A | ||
| NR_134891.1:n.710-179C>A | ||
| NR_134892.1:n.838-179C>A | ||
| NR_134899.1:n.466-179C>A | ||
| NM_018960.6:c.529C>A MANE Select | NP_061833.1:p.His177Asn | |
| NM_001318856.2:c.331C>A | NP_001305785.1:p.His111Asn | |
| NM_001318857.2:c.346C>A | NP_001305786.1:p.His116Asn | |
| NM_001318858.2:c.269-31C>A | NP_001305787.1:n.269-31C>A | |
| NM_001318865.2:c.472C>A | NP_001305794.1:p.His158Asn | |
| NR_134890.2:n.457-179C>A | ||
| NR_134891.2:n.360-179C>A | ||
| NR_134892.2:n.488-179C>A | ||
| NR_134899.2:n.466-179C>A |