Linked Data
dbSNP Id:
rs1162865491
gnomAD v2:
2-176958348-T-C
gnomAD v4:
2-176093620-T-C
COSMIC:
COSM5764744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093620T>C , CM000664.2:g.176093620T>C | GRCh38 |
| NC_000002.11:g.176958348T>C , CM000664.1:g.176958348T>C | GRCh37 |
| NC_000002.10:g.176666594T>C | NCBI36 |
| NG_008137.1:g.5817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.730T>C MANE Select | ENSP00000376322.3:p.Cys244Arg | |
| ENST00000392539.3:c.730T>C | ENSP00000376322.3:p.Cys244Arg | |
| NM_000523.3:c.730T>C | NP_000514.2:p.Cys244Arg | |
| XM_011511068.1:c.725-860T>C | XP_011509370.1:n.725-860T>C | |
| XM_011511068.2:c.725-860T>C | XP_011509370.1:n.725-860T>C | |
| NM_000523.4:c.730T>C MANE Select | NP_000514.2:p.Cys244Arg |