Linked Data
ClinVar Variation Id:
208923
ClinVar RCV Id:
RCV000201339
dbSNP Id:
rs201182031
ExAC:
10:87966199 G / A
gnomAD v2:
10-87966199-G-A
gnomAD v3:
10-86206442-G-A
gnomAD v4:
10-86206442-G-A
COSMIC:
COSM3935186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86206442G>A , CM000672.2:g.86206442G>A | GRCh38 |
| NC_000010.10:g.87966199G>A , CM000672.1:g.87966199G>A | GRCh37 |
| NC_000010.9:g.87956179G>A | NCBI36 |
| NG_011875.1:g.165052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.442C>T MANE Select | ENSP00000330148.7:p.Arg148Cys | |
| ENST00000327946.11:c.442C>T | ENSP00000330148.7:p.Arg148Cys | |
| ENST00000464741.2:c.442C>T | ENSP00000433064.1:p.Arg148Cys | |
| NM_017551.2:c.442C>T | NP_060021.1:p.Arg148Cys | |
| XM_011539720.1:c.442C>T | XP_011538022.1:p.Arg148Cys | |
| XM_011539720.2:c.442C>T | XP_011538022.1:p.Arg148Cys | |
| NM_017551.3:c.442C>T MANE Select | NP_060021.1:p.Arg148Cys |