Linked Data
ClinVar Variation Id:
237875
ClinVar RCV Id:
RCV000228125
RCV000479710
RCV001097629
RCV001097630
RCV001097631
RCV001097632
RCV001174319
RCV001812639
RCV002417996
dbSNP Id:
rs201720099
ExAC:
1:161277082 C / T
gnomAD v2:
1-161277082-C-T
gnomAD v3:
1-161307292-C-T
gnomAD v4:
1-161307292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161307292C>T , CM000663.2:g.161307292C>T | GRCh38 |
| NC_000001.10:g.161277082C>T , CM000663.1:g.161277082C>T | GRCh37 |
| NC_000001.9:g.159543706C>T | NCBI36 |
| NG_008055.1:g.7681G>A , LRG_256:g.7681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.200G>A | ENSP00000488104.2:p.Arg67His | |
| ENST00000533357.5:c.200G>A MANE Select | ENSP00000432943.1:p.Arg67His | |
| ENST00000672287.2:c.-389G>A | ENSP00000499818.2:n.-389G>A | |
| ENST00000672602.2:c.200G>A | ENSP00000500814.2:p.Arg67His | |
| ENST00000674861.1:n.263G>A | ||
| ENST00000463290.5:c.200G>A | ENSP00000431538.1:p.Arg67His | |
| ENST00000491222.5:c.-389G>A | ENSP00000431441.1:n.-389G>A | |
| ENST00000533357.4:c.200G>A | ENSP00000432943.1:p.Arg67His | |
| NM_000530.6:c.200G>A , LRG_256t1:c.200G>A | NP_000521.2:p.Arg67His | |
| NM_000530.7:c.200G>A | NP_000521.2:p.Arg67His | |
| NM_001315491.1:c.200G>A | NP_001302420.1:p.Arg67His | |
| XM_017001321.2:c.230G>A | XP_016856810.1:p.Arg77His | |
| NM_000530.8:c.200G>A MANE Select | NP_000521.2:p.Arg67His | |
| NM_001315491.2:c.200G>A | NP_001302420.1:p.Arg67His |