Linked Data
ClinVar Variation Id:
2690070
ClinVar RCV Id:
RCV003486257
dbSNP Id:
rs370877740
ExAC:
19:38774282 C / T
gnomAD v2:
19-38774282-C-T
gnomAD v3:
19-38283642-C-T
gnomAD v4:
19-38283642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38283642C>T , CM000681.2:g.38283642C>T | GRCh38 |
| NC_000019.9:g.38774282C>T , CM000681.1:g.38774282C>T | GRCh37 |
| NC_000019.8:g.43466122C>T | NCBI36 |
| NG_013372.1:g.24185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301244.12:c.122C>T MANE Select | ENSP00000301244.5:p.Ser41Leu | |
| ENST00000301244.11:c.122C>T | ENSP00000301244.5:p.Ser41Leu | |
| ENST00000454580.7:c.107-4234C>T | ENSP00000389788.2:n.107-4234C>T | |
| ENST00000587090.5:c.-29C>T | ENSP00000466407.1:n.-29C>T | |
| ENST00000587516.5:c.122C>T | ENSP00000465721.1:p.Ser41Leu | |
| ENST00000590210.1:n.319C>T | ||
| ENST00000590510.5:c.-29C>T | ENSP00000465301.1:n.-29C>T | |
| ENST00000592007.1:c.-29C>T | ENSP00000465561.1:n.-29C>T | |
| NM_001166103.1:c.107-4234C>T | NP_001159575.1:n.107-4234C>T | |
| NM_021102.3:c.122C>T | NP_066925.1:p.Ser41Leu | |
| NM_021102.4:c.122C>T MANE Select | NP_066925.1:p.Ser41Leu | |
| NM_001166103.2:c.107-4234C>T | NP_001159575.1:n.107-4234C>T |