Linked Data
dbSNP Id:
rs374435549
gnomAD v4:
1-180266507-C-A
MyVariant Identifiers:
chr1:g.180235642C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266507C>A , CM000663.2:g.180266507C>A | GRCh38 |
| NC_000001.10:g.180235642C>A , CM000663.1:g.180235642C>A | GRCh37 |
| NC_000001.9:g.178502265C>A | NCBI36 |
| NG_008081.1:g.41201C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.364C>A MANE Select | ENSP00000263726.2:p.Arg122= | |
| ENST00000263726.3:c.364C>A | ENSP00000263726.2:p.Arg122= | |
| ENST00000561113.1:c.301C>A | ||
| NM_033343.3:c.364C>A | NP_203129.1:p.Arg122= | |
| XM_011510105.1:c.181C>A | XP_011508407.1:p.Arg61= | |
| XM_011510106.1:c.181C>A | XP_011508408.1:p.Arg61= | |
| XM_011510107.1:c.139C>A | XP_011508409.1:p.Arg47= | |
| XM_011510108.1:c.139C>A | XP_011508410.1:p.Arg47= | |
| XM_011510105.2:c.181C>A | XP_011508407.1:p.Arg61= | |
| XM_011510106.3:c.181C>A | XP_011508408.1:p.Arg61= | |
| XM_011510108.2:c.139C>A | XP_011508410.1:p.Arg47= | |
| XM_017002755.1:c.139C>A | XP_016858244.1:p.Arg47= | |
| NM_033343.4:c.364C>A MANE Select | NP_203129.1:p.Arg122= |