Linked Data
dbSNP Id:
rs1245497128
gnomAD v2:
3-186459855-C-T
gnomAD v4:
3-186742066-C-T
COSMIC:
COSM446152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186742066C>T , CM000665.2:g.186742066C>T | GRCh38 |
| NC_000003.11:g.186459855C>T , CM000665.1:g.186459855C>T | GRCh37 |
| NC_000003.10:g.187942549C>T | NCBI36 |
| NG_016009.1:g.29758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1203+467C>T | ENSP00000287611.2:n.1203+467C>T | |
| ENST00000644859.2:c.1670C>T MANE Select | ENSP00000493985.1:p.Thr557Ile | |
| ENST00000265023.8:c.1670C>T | ENSP00000265023.4:p.Thr557Ile | |
| ENST00000287611.6:c.1203+467C>T | ENSP00000287611.2:n.1203+467C>T | |
| ENST00000447445.1:c.1095+467C>T | ENSP00000396025.1:n.1095+467C>T | |
| NM_000893.3:c.1203+467C>T | NP_000884.1:n.1203+467C>T | |
| NM_001102416.2:c.1670C>T | NP_001095886.1:p.Thr557Ile | |
| NM_001166451.1:c.1095+467C>T | NP_001159923.1:n.1095+467C>T | |
| NM_000893.4:c.1203+467C>T | NP_000884.1:n.1203+467C>T | |
| NM_001102416.3:c.1670C>T MANE Select | NP_001095886.1:p.Thr557Ile | |
| NM_001166451.2:c.1095+467C>T | NP_001159923.1:n.1095+467C>T |