Linked Data
ClinVar Variation Id:
1093059
dbSNP Id:
rs2146831286
gnomAD v4:
19-35851072-G-A
MyVariant Identifiers:
chr19:g.36341974G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851072G>A , CM000681.2:g.35851072G>A | GRCh38 |
| NC_000019.9:g.36341974G>A , CM000681.1:g.36341974G>A | GRCh37 |
| NC_000019.8:g.41033814G>A | NCBI36 |
| NG_013356.2:g.23216C>T , LRG_693:g.23216C>T | |
| NG_051206.1:g.4438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.415C>T MANE Select | ENSP00000368190.4:p.Leu139= | |
| ENST00000353632.6:c.415C>T | ENSP00000343634.5:p.Leu139= | |
| ENST00000378910.9:c.415C>T | ENSP00000368190.4:p.Leu139= | |
| NM_004646.3:c.415C>T , LRG_693t1:c.415C>T | NP_004637.1:p.Leu139= | |
| NM_004646.4:c.415C>T MANE Select | NP_004637.1:p.Leu139= |