Linked Data
ClinVar Variation Id:
419464
dbSNP Id:
rs747676827
ExAC:
20:42788349 T / G
gnomAD v2:
20-42788349-T-G
gnomAD v3:
20-44159709-T-G
gnomAD v4:
20-44159709-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44159709T>G , CM000682.2:g.44159709T>G | GRCh38 |
| NC_000020.10:g.42788349T>G , CM000682.1:g.42788349T>G | GRCh37 |
| NC_000020.9:g.42221763T>G | NCBI36 |
| NG_031867.1:g.32870A>C , LRG_394:g.32870A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372980.4:c.1078A>C MANE Select | ENSP00000362071.3:p.Asn360His | |
| ENST00000372980.3:c.1078A>C | ENSP00000362071.3:p.Asn360His | |
| NM_020433.4:c.1078A>C , LRG_394t1:c.1078A>C | NP_065166.2:p.Asn360His | |
| XM_006723832.2:c.1078A>C | XP_006723895.1:p.Asn360His | |
| NM_020433.5:c.1078A>C MANE Select | NP_065166.2:p.Asn360His |