Linked Data
ClinVar Variation Id:
4321
dbSNP Id:
rs1141814
ExAC:
1:155209725 G / A
gnomAD v2:
1-155209725-G-A
gnomAD v3:
1-155239934-G-A
gnomAD v4:
1-155239934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155239934G>A , CM000663.2:g.155239934G>A | GRCh38 |
| NC_000001.10:g.155209725G>A , CM000663.1:g.155209725G>A | GRCh37 |
| NC_000001.9:g.153476349G>A | NCBI36 |
| NG_009783.1:g.9764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.259C>T MANE Select | ENSP00000357357.3:p.Arg87Trp | |
| ENST00000327247.9:c.259C>T | ENSP00000314508.5:p.Arg87Trp | |
| ENST00000368373.7:c.259C>T | ENSP00000357357.3:p.Arg87Trp | |
| ENST00000427500.7:c.259C>T | ENSP00000402577.2:p.Arg87Trp | |
| ENST00000428024.3:c.-3C>T | ENSP00000397986.2:n.-3C>T | |
| ENST00000467918.5:n.449C>T | ||
| ENST00000473570.5:n.580C>T | ||
| ENST00000484489.5:n.339+39C>T | ||
| ENST00000493842.5:n.597C>T | ||
| ENST00000497670.5:n.29C>T | ||
| NM_000157.3:c.259C>T | NP_000148.2:p.Arg87Trp | |
| NM_001005741.2:c.259C>T | NP_001005741.1:p.Arg87Trp | |
| NM_001005742.2:c.259C>T | NP_001005742.1:p.Arg87Trp | |
| NM_001171811.1:c.-3C>T | NP_001165282.1:n.-3C>T | |
| NM_001171812.1:c.259C>T | NP_001165283.1:p.Arg87Trp | |
| XM_006711270.1:c.259C>T | XP_006711333.1:p.Arg87Trp | |
| XM_011509407.1:c.259C>T | XP_011507709.1:p.Arg87Trp | |
| NM_000157.4:c.259C>T MANE Select | NP_000148.2:p.Arg87Trp | |
| NM_001005741.3:c.259C>T | NP_001005741.1:p.Arg87Trp | |
| NM_001005742.3:c.259C>T | NP_001005742.1:p.Arg87Trp | |
| NM_001171811.2:c.-3C>T | NP_001165282.1:n.-3C>T | |
| NM_001171812.2:c.259C>T | NP_001165283.1:p.Arg87Trp |