Linked Data
ClinVar Variation Id:
686
ClinVar RCV Id:
RCV000000721
dbSNP Id:
rs80358197
ExAC:
1:24175139 C / T
gnomAD v2:
1-24175139-C-T
gnomAD v4:
1-23848649-C-T
PubMed:
PMID:8401503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848649C>T , CM000663.2:g.23848649C>T | GRCh38 |
| NC_000001.10:g.24175139C>T , CM000663.1:g.24175139C>T | GRCh37 |
| NC_000001.9:g.24047726C>T | NCBI36 |
| NG_013346.1:g.24721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1160G>A MANE Select | ENSP00000363603.3:p.Trp387Ter | |
| ENST00000374479.3:c.1160G>A | ENSP00000363603.3:p.Trp387Ter | |
| NM_000147.4:c.1160G>A | NP_000138.2:p.Trp387Ter | |
| XM_005245821.1:c.785G>A | XP_005245878.1:p.Trp262Ter | |
| XM_011541167.1:c.527G>A | XP_011539469.1:p.Trp176Ter | |
| XM_005245821.3:c.785G>A | XP_005245878.1:p.Trp262Ter | |
| XM_011541167.3:c.527G>A | XP_011539469.1:p.Trp176Ter | |
| XM_017000905.2:c.857G>A | XP_016856394.1:p.Trp286Ter | |
| NM_000147.5:c.1160G>A MANE Select | NP_000138.2:p.Trp387Ter | |
| NR_174379.1:n.1338G>A | ||
| NR_174380.1:n.1387G>A | ||
| NR_174381.1:n.1226G>A | ||
| NR_174382.1:n.1623G>A |