Linked Data
ClinVar Variation Id:
1021347
ClinVar RCV Id:
RCV001321093
dbSNP Id:
rs571398445
ExAC:
5:158743747 C / G
gnomAD v2:
5-158743747-C-G
gnomAD v3:
5-159316739-C-G
gnomAD v4:
5-159316739-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316739C>G , CM000667.2:g.159316739C>G | GRCh38 |
| NC_000005.9:g.158743747C>G , CM000667.1:g.158743747C>G | GRCh37 |
| NC_000005.8:g.158676325C>G | NCBI36 |
| NG_009618.1:g.18735G>C , LRG_71:g.18735G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.303G>C | ENSP00000512849.1:p.Gln101His | |
| ENST00000696751.1:c.*428G>C | ENSP00000512850.1:n.*428G>C | |
| ENST00000231228.3:c.933G>C MANE Select | ENSP00000231228.2:p.Gln311His | |
| ENST00000231228.2:c.933G>C | ENSP00000231228.2:p.Gln311His | |
| NM_002187.2:c.933G>C , LRG_71t1:c.933G>C | NP_002178.2:p.Gln311His | |
| NM_002187.3:c.933G>C MANE Select | NP_002178.2:p.Gln311His |