Linked Data
ClinVar Variation Id:
2261556
ClinVar RCV Id:
RCV002803107
dbSNP Id:
rs894072627
gnomAD v2:
2-27428234-G-A
gnomAD v3:
2-27205366-G-A
gnomAD v4:
2-27205366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27205366G>A , CM000664.2:g.27205366G>A | GRCh38 |
| NC_000002.11:g.27428234G>A , CM000664.1:g.27428234G>A | GRCh37 |
| NC_000002.10:g.27281738G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310574.8:c.718C>T MANE Select | ENSP00000310208.3:p.Arg240Cys | |
| ENST00000310574.7:c.718C>T | ENSP00000310208.3:p.Arg240Cys | |
| ENST00000408041.5:c.718C>T | ENSP00000384853.1:p.Arg240Cys | |
| ENST00000464538.1:n.433C>T | ||
| ENST00000488743.6:n.1052C>T | ||
| NM_021095.2:c.718C>T | NP_066918.2:p.Arg240Cys | |
| NR_028323.1:n.1213C>T | ||
| XM_006712128.1:c.718C>T | XP_006712191.1:p.Arg240Cys | |
| XM_006712129.1:c.718C>T | XP_006712192.1:p.Arg240Cys | |
| XM_006712130.1:c.718C>T | XP_006712193.1:p.Arg240Cys | |
| XM_006712131.2:c.718C>T | XP_006712194.1:p.Arg240Cys | |
| XM_011533144.1:c.718C>T | XP_011531446.1:p.Arg240Cys | |
| XM_011533145.1:c.718C>T | XP_011531447.1:p.Arg240Cys | |
| XM_011533146.1:c.65+46C>T | XP_011531448.1:n.65+46C>T | |
| XR_939737.1:n.1213C>T | ||
| XM_006712128.2:c.718C>T | XP_006712191.1:p.Arg240Cys | |
| XM_011533146.3:c.65+46C>T | XP_011531448.1:n.65+46C>T | |
| XM_017005216.1:c.91C>T | XP_016860705.1:p.Arg31Cys | |
| XM_024453206.1:c.718C>T | XP_024308974.1:p.Arg240Cys | |
| XM_024453207.1:c.718C>T | XP_024308975.1:p.Arg240Cys | |
| XR_001739022.1:n.1014C>T | ||
| XR_001739023.1:n.944C>T | ||
| XR_001739024.2:n.1011C>T | ||
| XR_001739025.2:n.966+46C>T | ||
| XR_002959356.1:n.1248C>T | ||
| XR_002959357.1:n.1183C>T | ||
| XR_002959358.1:n.1183C>T | ||
| NM_021095.3:c.718C>T | NP_066918.2:p.Arg240Cys | |
| NM_021095.4:c.718C>T MANE Select | NP_066918.2:p.Arg240Cys | |
| NR_028323.2:n.1174C>T |