Linked Data
ClinVar Variation Id:
477625
dbSNP Id:
rs1553926905
gnomAD v4:
4-88056143-C-T
COSMIC:
COSM3606894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88056143C>T , CM000666.2:g.88056143C>T | GRCh38 |
| NC_000004.11:g.88977295C>T , CM000666.1:g.88977295C>T | GRCh37 |
| NC_000004.10:g.89196319C>T | NCBI36 |
| NG_008604.1:g.53476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1774C>T MANE Select | ENSP00000237596.2:p.Arg592Ter | |
| ENST00000237596.6:c.1774C>T | ENSP00000237596.2:p.Arg592Ter | |
| ENST00000502363.1:c.28C>T | ENSP00000425289.1:p.Arg10Ter | |
| ENST00000508588.5:c.28C>T | ENSP00000427131.1:p.Arg10Ter | |
| ENST00000511337.5:n.147C>T | ||
| ENST00000512858.1:n.107C>T | ||
| NM_000297.3:c.1774C>T | NP_000288.1:p.Arg592Ter | |
| XM_011532028.1:c.1549C>T | XP_011530330.1:p.Arg517Ter | |
| XM_011532029.1:c.1054C>T | XP_011530331.1:p.Arg352Ter | |
| XM_011532030.1:c.934C>T | XP_011530332.1:p.Arg312Ter | |
| XR_244632.2:n.1869C>T | ||
| NR_156488.1:n.1861C>T | ||
| XM_011532028.2:c.1549C>T | XP_011530330.1:p.Arg517Ter | |
| XM_011532030.2:c.934C>T | XP_011530332.1:p.Arg312Ter | |
| NM_000297.4:c.1774C>T MANE Select | NP_000288.1:p.Arg592Ter | |
| NR_156488.2:n.1873C>T |