Linked Data
ClinVar Variation Id:
2832108
ClinVar RCV Id:
RCV003689340
MyVariant Identifiers:
chr19:g.36317422C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826520C>T , CM000681.2:g.35826520C>T | GRCh38 |
| NC_000019.9:g.36317422C>T , CM000681.1:g.36317422C>T | GRCh37 |
| NC_000019.8:g.41009262C>T | NCBI36 |
| NG_013356.2:g.47768G>A , LRG_693:g.47768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3720G>A MANE Select | ENSP00000368190.4:p.Leu1240= | |
| ENST00000353632.6:c.3600G>A | ENSP00000343634.5:p.Leu1200= | |
| ENST00000378910.9:c.3720G>A | ENSP00000368190.4:p.Leu1240= | |
| NM_004646.3:c.3720G>A , LRG_693t1:c.3720G>A | NP_004637.1:p.Leu1240= | |
| NM_004646.4:c.3720G>A MANE Select | NP_004637.1:p.Leu1240= |