Linked Data
ClinVar Variation Id:
2227003
ClinVar RCV Id:
RCV004087203
dbSNP Id:
rs1196664028
gnomAD v2:
8-37823221-C-A
gnomAD v4:
8-37965703-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965703C>A , CM000670.2:g.37965703C>A | GRCh38 |
| NC_000008.10:g.37823221C>A , CM000670.1:g.37823221C>A | GRCh37 |
| NC_000008.9:g.37942378C>A | NCBI36 |
| NG_011936.1:g.5964G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.767G>T MANE Select | ENSP00000343782.3:p.Arg256Leu | |
| ENST00000520341.2:n.895G>T | ||
| ENST00000647937.1:c.251G>T | ENSP00000497740.1:p.Arg84Leu | |
| ENST00000345060.4:c.767G>T | ENSP00000343782.3:p.Arg256Leu | |
| ENST00000520341.1:n.42G>T | ||
| ENST00000614635.1:c.767G>T | ENSP00000480325.1:p.Arg256Leu | |
| NM_000025.2:c.767G>T | NP_000016.1:p.Arg256Leu | |
| NM_000025.3:c.767G>T MANE Select | NP_000016.1:p.Arg256Leu |