Linked Data
dbSNP Id:
rs1871534
gnomAD v3:
8-144414297-C-G
gnomAD v4:
8-144414297-C-G
MyVariant Identifiers:
chr8:g.144414297C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414297C>G , CM000670.2:g.144414297C>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1114G>C MANE Select | ENSP00000301305.4:p.Val372Leu | |
| ENST00000276833.9:c.1039G>C | ENSP00000276833.5:p.Val347Leu | |
| ENST00000301305.7:c.1114G>C | ENSP00000301305.3:p.Val372Leu | |
| XM_006716599.1:c.1114G>C | XP_006716662.1:p.Val372Leu | |
| XM_011517153.1:c.832G>C | XP_011515455.1:p.Val278Leu | |
| XM_024447188.1:c.832G>C | XP_024302956.1:p.Val278Leu | |
| XM_024447189.1:c.832G>C | XP_024302957.1:p.Val278Leu | |
| NM_001374839.1:c.832G>C | NP_001361768.1:p.Val278Leu | |
| NM_017767.3:c.1039G>C | NP_060237.3:p.Val347Leu | |
| NM_130849.4:c.1114G>C MANE Select | NP_570901.3:p.Val372Leu |