Linked Data
dbSNP Id:
rs11544174
gnomAD v2:
5-71015249-C-T
gnomAD v4:
5-71719422-C-T
COSMIC:
COSM5549872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719422C>T , CM000667.2:g.71719422C>T | GRCh38 |
| NC_000005.9:g.71015249C>T , CM000667.1:g.71015249C>T | GRCh37 |
| NC_000005.8:g.71051005C>T | NCBI36 |
| NG_015988.1:g.5260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.129C>T MANE Select | ENSP00000296777.4:p.Ala43= | |
| ENST00000296777.4:c.129C>T | ENSP00000296777.4:p.Ala43= | |
| NM_004291.3:c.129C>T | NP_004282.1:p.Ala43= | |
| NM_004291.4:c.129C>T MANE Select | NP_004282.1:p.Ala43= |