Linked Data
ClinVar Variation Id:
2631113
ClinVar RCV Id:
RCV003414378
dbSNP Id:
rs753677978
ExAC:
16:87936111 A / G
gnomAD v2:
16-87936111-A-G
gnomAD v4:
16-87902505-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902505A>G , CM000678.2:g.87902505A>G | GRCh38 |
| NC_000016.9:g.87936111A>G , CM000678.1:g.87936111A>G | GRCh37 |
| NC_000016.8:g.86493612A>G | NCBI36 |
| NG_033227.1:g.39002T>C | |
| NG_033227.2:g.39025T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.475T>C | ENSP00000497934.1:p.Trp159Arg | |
| ENST00000648177.1:c.356T>C | ENSP00000497626.1:p.Leu119Pro | |
| ENST00000649158.1:c.475T>C | ENSP00000496993.1:p.Trp159Arg | |
| ENST00000649794.3:c.475T>C MANE Select | ENSP00000498065.2:p.Trp159Arg | |
| ENST00000309893.3:c.475T>C | ENSP00000309649.2:p.Trp159Arg | |
| NM_001739.1:c.475T>C | NP_001730.1:p.Trp159Arg | |
| XM_011523309.1:c.475T>C | XP_011521611.1:p.Trp159Arg | |
| XM_011523310.1:c.475T>C | XP_011521612.1:p.Trp159Arg | |
| XR_933417.1:n.594T>C | ||
| NM_001739.2:c.475T>C MANE Select | NP_001730.1:p.Trp159Arg | |
| XM_011523309.2:c.475T>C | XP_011521611.1:p.Trp159Arg | |
| XM_017023646.1:c.475T>C | XP_016879135.1:p.Trp159Arg | |
| XM_024450434.1:c.97T>C | XP_024306202.1:p.Trp33Arg | |
| XR_002957839.1:n.600T>C | ||
| NM_001367225.1:c.475T>C | NP_001354154.1:p.Trp159Arg | |
| NR_159798.1:n.554T>C | ||
| NR_159799.1:n.435T>C |