Linked Data
dbSNP Id:
rs1808297468
gnomAD v4:
8-37965816-G-A
MyVariant Identifiers:
chr8:g.37823334G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965816G>A , CM000670.2:g.37965816G>A | GRCh38 |
| NC_000008.10:g.37823334G>A , CM000670.1:g.37823334G>A | GRCh37 |
| NC_000008.9:g.37942491G>A | NCBI36 |
| NG_011936.1:g.5851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.654C>T MANE Select | ENSP00000343782.3:p.Leu218= | |
| ENST00000520341.2:n.782C>T | ||
| ENST00000647937.1:c.138C>T | ENSP00000497740.1:p.Leu46= | |
| ENST00000345060.4:c.654C>T | ENSP00000343782.3:p.Leu218= | |
| ENST00000614635.1:c.654C>T | ENSP00000480325.1:p.Leu218= | |
| NM_000025.2:c.654C>T | NP_000016.1:p.Leu218= | |
| NM_000025.3:c.654C>T MANE Select | NP_000016.1:p.Leu218= |