Linked Data
ClinVar Variation Id:
3104224
ClinVar RCV Id:
RCV004399100
dbSNP Id:
rs200158268
ExAC:
15:89424654 G / A
gnomAD v2:
15-89424654-G-A
gnomAD v3:
15-88881423-G-A
gnomAD v4:
15-88881423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881423G>A , CM000677.2:g.88881423G>A | GRCh38 |
| NC_000015.9:g.89424654G>A , CM000677.1:g.89424654G>A | GRCh37 |
| NC_000015.8:g.87225658G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.427C>T MANE Select | ENSP00000352606.4:p.Arg143Cys | |
| ENST00000359595.7:c.427C>T | ENSP00000352606.3:p.Arg143Cys | |
| ENST00000558770.5:c.427C>T | ENSP00000456458.1:p.Arg143Cys | |
| ENST00000562281.1:c.427C>T | ENSP00000456985.1:p.Arg143Cys | |
| ENST00000562889.5:c.613C>T | ENSP00000457180.1:p.Arg205Cys | |
| ENST00000563808.1:n.529C>T | ||
| NM_001307952.1:c.613C>T | NP_001294881.1:p.Arg205Cys | |
| NM_178232.2:c.427C>T | NP_839946.1:p.Arg143Cys | |
| NM_178232.3:c.427C>T | NP_839946.1:p.Arg143Cys | |
| XM_011521261.1:c.559C>T | XP_011519563.1:p.Arg187Cys | |
| XR_243204.1:n.642C>T | ||
| XR_931756.1:n.748C>T | ||
| XM_017021934.2:c.613C>T | XP_016877423.1:p.Arg205Cys | |
| XM_017021935.2:c.48C>T | XP_016877424.1:p.Gly16= | |
| XM_017021936.2:c.48C>T | XP_016877425.1:p.Gly16= | |
| XR_001751098.2:n.760C>T | ||
| XR_931756.3:n.761C>T | ||
| NM_001307952.2:c.613C>T | NP_001294881.1:p.Arg205Cys | |
| NM_178232.4:c.427C>T MANE Select | NP_839946.1:p.Arg143Cys |