Linked Data
ClinVar Variation Id:
10537
dbSNP Id:
rs137852292
gnomAD v4:
X-18951164-G-A
PubMed:
PMID:8733134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18951164G>A , CM000685.2:g.18951164G>A | GRCh38 |
| NC_000023.10:g.18969282G>A , CM000685.1:g.18969282G>A | GRCh37 |
| NC_000023.9:g.18879203G>A | NCBI36 |
| NG_016622.1:g.38199C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379942.5:c.394C>T MANE Select | ENSP00000369274.4:p.His132Tyr | |
| ENST00000379942.4:c.394C>T | ENSP00000369274.4:p.His132Tyr | |
| NM_000292.2:c.394C>T | NP_000283.1:p.His132Tyr | |
| XM_005274548.3:c.394C>T | XP_005274605.1:p.His132Tyr | |
| XM_005274550.3:c.394C>T | XP_005274607.1:p.His132Tyr | |
| XM_006724496.2:c.394C>T | XP_006724559.1:p.His132Tyr | |
| XM_006724498.2:c.-93+1330C>T | XP_006724561.1:n.-93+1330C>T | |
| XM_011545537.1:c.394C>T | XP_011543839.1:p.His132Tyr | |
| XR_950461.1:n.578C>T | ||
| XM_005274548.5:c.394C>T | XP_005274605.1:p.His132Tyr | |
| XM_005274550.5:c.394C>T | XP_005274607.1:p.His132Tyr | |
| XM_006724496.4:c.394C>T | XP_006724559.1:p.His132Tyr | |
| XM_006724498.4:c.-93+1330C>T | XP_006724561.1:n.-93+1330C>T | |
| XM_011545537.3:c.394C>T | XP_011543839.1:p.His132Tyr | |
| XM_017029580.2:c.-448C>T | XP_016885069.1:n.-448C>T | |
| XR_001755697.2:n.564C>T | ||
| XR_001755698.2:n.564C>T | ||
| XR_002958777.1:n.564C>T | ||
| XR_950461.3:n.564C>T | ||
| NM_000292.3:c.394C>T MANE Select | NP_000283.1:p.His132Tyr |