Linked Data
ClinVar Variation Id:
1010979
ClinVar RCV Id:
RCV001308710
dbSNP Id:
rs142943842
ExAC:
5:138282961 G / A
gnomAD v2:
5-138282961-G-A
gnomAD v3:
5-138947272-G-A
gnomAD v4:
5-138947272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947272G>A , CM000667.2:g.138947272G>A | GRCh38 |
| NC_000005.9:g.138282961G>A , CM000667.1:g.138282961G>A | GRCh37 |
| NC_000005.8:g.138310860G>A | NCBI36 |
| NG_008112.1:g.256105C>T | |
| NG_008112.2:g.256105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1231C>T MANE Select | ENSP00000378294.2:p.Arg411Cys | |
| ENST00000265195.9:c.1231C>T | ENSP00000265195.5:p.Arg411Cys | |
| ENST00000394817.6:c.1231C>T | ENSP00000378294.2:p.Arg411Cys | |
| ENST00000509534.5:c.1252C>T | ENSP00000426858.1:p.Arg418Cys | |
| ENST00000515008.1:n.566C>T | ||
| NM_001037633.1:c.1231C>T | NP_001032722.1:p.Arg411Cys | |
| NM_022464.4:c.1231C>T | NP_071909.1:p.Arg411Cys | |
| XM_011543570.1:c.1261C>T | XP_011541872.1:p.Arg421Cys | |
| XM_011543570.2:c.1261C>T | XP_011541872.1:p.Arg421Cys | |
| XM_024446164.1:c.1231C>T | XP_024301932.1:p.Arg411Cys | |
| NM_022464.5:c.1231C>T MANE Select | NP_071909.1:p.Arg411Cys | |
| NM_001037633.2:c.1231C>T | NP_001032722.1:p.Arg411Cys |