Linked Data
ClinVar Variation Id:
281002
dbSNP Id:
rs753823903
ExAC:
5:73989526 C / T
gnomAD v2:
5-73989526-C-T
gnomAD v3:
5-74693701-C-T
gnomAD v4:
5-74693701-C-T
COSMIC:
COSM3073185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74693701C>T , CM000667.2:g.74693701C>T | GRCh38 |
| NC_000005.9:g.73989526C>T , CM000667.1:g.73989526C>T | GRCh37 |
| NC_000005.8:g.74025282C>T | NCBI36 |
| NG_009770.1:g.13558C>T | |
| NG_009770.2:g.58679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.508C>T MANE Select | ENSP00000261416.7:p.Arg170Ter | |
| ENST00000261416.11:c.508C>T | ENSP00000261416.7:p.Arg170Ter | |
| ENST00000510820.1:n.227C>T | ||
| ENST00000511181.5:c.-168C>T | ENSP00000426285.1:n.-168C>T | |
| ENST00000513079.5:n.573C>T | ||
| NM_000521.3:c.508C>T | NP_000512.1:p.Arg170Ter | |
| NM_001292004.1:c.-168C>T | NP_001278933.1:n.-168C>T | |
| NM_000521.4:c.508C>T MANE Select | NP_000512.2:p.Arg170Ter | |
| NM_001292004.2:c.-168C>T | NP_001278933.1:n.-168C>T |