Linked Data
ClinVar Variation Id:
93999
ClinVar RCV Id:
RCV000177143
dbSNP Id:
rs398123665
gnomAD v4:
1-100235436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100235436C>T , CM000663.2:g.100235436C>T | GRCh38 |
| NC_000001.10:g.100700992C>T , CM000663.1:g.100700992C>T | GRCh37 |
| NC_000001.9:g.100473580C>T | NCBI36 |
| NG_011852.2:g.19418G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681617.1:c.251G>A | ENSP00000505544.1:p.Trp84Ter | |
| ENST00000681780.1:c.-293G>A | ENSP00000505780.1:n.-293G>A | |
| ENST00000370131.3:c.251G>A | ENSP00000359150.3:p.Trp84Ter | |
| ENST00000370132.8:c.251G>A MANE Select | ENSP00000359151.3:p.Trp84Ter | |
| NM_001918.3:c.251G>A | NP_001909.3:p.Trp84Ter | |
| XM_005270545.2:c.-293G>A | XP_005270602.1:n.-293G>A | |
| XM_005270546.2:c.-111G>A | XP_005270603.1:n.-111G>A | |
| XR_946560.1:n.271G>A | ||
| XM_005270545.4:c.-293G>A | XP_005270602.1:n.-293G>A | |
| XM_017000468.2:c.-293G>A | XP_016855957.1:n.-293G>A | |
| XM_017000469.2:c.-111G>A | XP_016855958.1:n.-111G>A | |
| XR_946560.3:n.268G>A | ||
| NM_001918.4:c.251G>A | NP_001909.3:p.Trp84Ter | |
| NM_001918.5:c.251G>A MANE Select | NP_001909.4:p.Trp84Ter | |
| NM_001399969.1:c.-293G>A | NP_001386898.1:n.-293G>A | |
| NM_001399972.1:c.-293G>A | NP_001386901.1:n.-293G>A | |
| NR_174363.1:n.265G>A | ||
| NR_174364.1:n.265G>A | ||
| NR_174365.1:n.265G>A | ||
| NR_174366.1:n.265G>A |