Linked Data
ClinVar Variation Id:
10538
dbSNP Id:
rs137852294
gnomAD v4:
X-18945140-G-A
PubMed:
PMID:8733133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18945140G>A , CM000685.2:g.18945140G>A | GRCh38 |
| NC_000023.10:g.18963258G>A , CM000685.1:g.18963258G>A | GRCh37 |
| NC_000023.9:g.18873179G>A | NCBI36 |
| NG_016622.1:g.44223C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379942.5:c.556C>T MANE Select | ENSP00000369274.4:p.Arg186Cys | |
| ENST00000379942.4:c.556C>T | ENSP00000369274.4:p.Arg186Cys | |
| NM_000292.2:c.556C>T | NP_000283.1:p.Arg186Cys | |
| XM_005274548.3:c.556C>T | XP_005274605.1:p.Arg186Cys | |
| XM_005274550.3:c.556C>T | XP_005274607.1:p.Arg186Cys | |
| XM_006724496.2:c.556C>T | XP_006724559.1:p.Arg186Cys | |
| XM_006724498.2:c.10C>T | XP_006724561.1:p.Arg4Cys | |
| XM_011545537.1:c.556C>T | XP_011543839.1:p.Arg186Cys | |
| XR_950461.1:n.740C>T | ||
| XM_005274548.5:c.556C>T | XP_005274605.1:p.Arg186Cys | |
| XM_005274550.5:c.556C>T | XP_005274607.1:p.Arg186Cys | |
| XM_006724496.4:c.556C>T | XP_006724559.1:p.Arg186Cys | |
| XM_006724498.4:c.10C>T | XP_006724561.1:p.Arg4Cys | |
| XM_011545537.3:c.556C>T | XP_011543839.1:p.Arg186Cys | |
| XM_017029580.2:c.-286C>T | XP_016885069.1:n.-286C>T | |
| XR_001755697.2:n.726C>T | ||
| XR_001755698.2:n.726C>T | ||
| XR_002958777.1:n.726C>T | ||
| XR_950461.3:n.726C>T | ||
| NM_000292.3:c.556C>T MANE Select | NP_000283.1:p.Arg186Cys |