Linked Data
dbSNP Id:
rs1425685904
gnomAD v2:
7-143029823-C-T
gnomAD v4:
7-143332730-C-T
COSMIC:
COSM3411720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332730C>T , CM000669.2:g.143332730C>T | GRCh38 |
| NC_000007.13:g.143029823C>T , CM000669.1:g.143029823C>T | GRCh37 |
| NC_000007.12:g.142739945C>T | NCBI36 |
| NG_009815.1:g.21605C>T | |
| NG_009815.2:g.21605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1258C>T | ENSP00000498052.2:p.Pro420Ser | |
| ENST00000343257.7:c.1258C>T MANE Select | ENSP00000339867.2:p.Pro420Ser | |
| ENST00000432192.6:c.1082C>T | ||
| ENST00000343257.6:c.1258C>T | ENSP00000339867.2:p.Pro420Ser | |
| NM_000083.2:c.1258C>T | NP_000074.2:p.Pro420Ser | |
| NR_046453.1:n.1341+227C>T | ||
| XM_011515781.1:c.1282C>T | XP_011514083.1:p.Pro428Ser | |
| XM_011515782.1:c.4C>T | XP_011514084.1:p.Pro2Ser | |
| XM_011515782.2:c.4C>T | XP_011514084.1:p.Pro2Ser | |
| XM_017011739.1:c.832C>T | XP_016867228.1:p.Pro278Ser | |
| XM_017011740.1:c.808C>T | XP_016867229.1:p.Pro270Ser | |
| NM_000083.3:c.1258C>T MANE Select | NP_000074.3:p.Pro420Ser | |
| NR_046453.2:n.1356+227C>T |