Linked Data
ClinVar Variation Id:
50912
ClinVar RCV Id:
RCV000043627
dbSNP Id:
rs387907368
gnomAD v4:
7-5641285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641285G>A , CM000669.2:g.5641285G>A | GRCh38 |
| NC_000007.13:g.5680916G>A , CM000669.1:g.5680916G>A | GRCh37 |
| NC_000007.12:g.5647442G>A | NCBI36 |
| NG_029374.1:g.145446C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389902.8:c.2251C>T MANE Select | ENSP00000374552.3:p.Arg751Cys | |
| ENST00000389900.8:c.*1368C>T | ENSP00000374550.4:n.*1368C>T | |
| ENST00000389902.7:c.2251C>T | ENSP00000374552.3:p.Arg751Cys | |
| ENST00000425013.6:c.2080C>T | ENSP00000404602.2:p.Arg694Cys | |
| ENST00000469375.1:n.468C>T | ||
| NM_207111.3:c.2251C>T | NP_996994.1:p.Arg751Cys | |
| NM_207116.2:c.2080C>T | NP_996999.1:p.Arg694Cys | |
| XM_005249785.2:c.2251C>T | XP_005249842.1:p.Arg751Cys | |
| XM_006715748.1:c.946C>T | XP_006715811.1:p.Arg316Cys | |
| XM_011515434.1:c.2251C>T | XP_011513736.1:p.Arg751Cys | |
| XM_011515436.1:c.946C>T | XP_011513738.1:p.Arg316Cys | |
| XM_011515436.2:c.946C>T | XP_011513738.1:p.Arg316Cys | |
| XM_017012363.2:c.2080C>T | XP_016867852.1:p.Arg694Cys | |
| XM_024446805.1:c.2251C>T | XP_024302573.1:p.Arg751Cys | |
| XM_024446806.1:c.946C>T | XP_024302574.1:p.Arg316Cys | |
| XM_024446807.1:c.946C>T | XP_024302575.1:p.Arg316Cys | |
| NM_001377156.1:c.2080C>T | NP_001364085.1:p.Arg694Cys | |
| NM_207111.4:c.2251C>T MANE Select | NP_996994.1:p.Arg751Cys | |
| NM_207116.3:c.2080C>T | NP_996999.1:p.Arg694Cys |