Linked Data
ClinVar Variation Id:
257927
dbSNP Id:
rs180970138
ExAC:
7:21765496 C / T
gnomAD v2:
7-21765496-C-T
gnomAD v3:
7-21725878-C-T
gnomAD v4:
7-21725878-C-T
COSMIC:
COSM183052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21725878C>T , CM000669.2:g.21725878C>T | GRCh38 |
| NC_000007.13:g.21765496C>T , CM000669.1:g.21765496C>T | GRCh37 |
| NC_000007.12:g.21732021C>T | NCBI36 |
| NG_012886.2:g.187664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.7334C>T MANE Select | ENSP00000475939.1:p.Ser2445Leu | |
| ENST00000328843.10:c.7355C>T | ENSP00000330671.7:p.Ser2452Leu | |
| ENST00000409508.7:c.7334C>T | ENSP00000475939.1:p.Ser2445Leu | |
| ENST00000620169.4:c.7355C>T | ENSP00000481693.1:p.Ser2452Leu | |
| NM_001277115.1:c.7334C>T | NP_001264044.1:p.Ser2445Leu | |
| NM_001277115.2:c.7334C>T MANE Select | NP_001264044.1:p.Ser2445Leu |