Linked Data
ClinVar Variation Id:
687
ClinVar RCV Id:
RCV000000722
dbSNP Id:
rs80358198
gnomAD v4:
1-23863148-G-T
PubMed:
PMID:8401503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23863148G>T , CM000663.2:g.23863148G>T | GRCh38 |
| NC_000001.10:g.24189638G>T , CM000663.1:g.24189638G>T | GRCh37 |
| NC_000001.9:g.24062225G>T | NCBI36 |
| NG_013346.1:g.10222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.648C>A MANE Select | ENSP00000363603.3:p.Tyr216Ter | |
| ENST00000374479.3:c.648C>A | ENSP00000363603.3:p.Tyr216Ter | |
| NM_000147.4:c.648C>A | NP_000138.2:p.Tyr216Ter | |
| XM_005245821.1:c.273C>A | XP_005245878.1:p.Tyr91Ter | |
| XM_011541167.1:c.15C>A | XP_011539469.1:p.Tyr5Ter | |
| XM_005245821.3:c.273C>A | XP_005245878.1:p.Tyr91Ter | |
| XM_011541167.3:c.15C>A | XP_011539469.1:p.Tyr5Ter | |
| XM_017000905.2:c.345C>A | XP_016856394.1:p.Tyr115Ter | |
| NM_000147.5:c.648C>A MANE Select | NP_000138.2:p.Tyr216Ter | |
| NR_174379.1:n.826C>A | ||
| NR_174380.1:n.875C>A | ||
| NR_174381.1:n.714C>A | ||
| NR_174382.1:n.1111C>A |