Linked Data
ClinVar Variation Id:
1540769
ClinVar RCV Id:
RCV002157253
dbSNP Id:
rs1554873079
gnomAD v4:
8-144414417-G-A
MyVariant Identifiers:
chr8:g.145639801G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414417G>A , CM000670.2:g.144414417G>A | GRCh38 |
| NC_000008.10:g.145639801G>A , CM000670.1:g.145639801G>A | GRCh37 |
| NC_000008.9:g.145610609G>A | NCBI36 |
| NG_012234.2:g.7474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.994C>T MANE Select | ENSP00000301305.4:p.Leu332= | |
| ENST00000276833.9:c.919C>T | ENSP00000276833.5:p.Leu307= | |
| ENST00000301305.7:c.994C>T | ENSP00000301305.3:p.Leu332= | |
| NM_017767.2:c.919C>T | NP_060237.2:p.Leu307= | |
| NM_130849.3:c.994C>T | NP_570901.2:p.Leu332= | |
| XM_006716599.1:c.994C>T | XP_006716662.1:p.Leu332= | |
| XM_011517153.1:c.712C>T | XP_011515455.1:p.Leu238= | |
| XM_024447188.1:c.712C>T | XP_024302956.1:p.Leu238= | |
| XM_024447189.1:c.712C>T | XP_024302957.1:p.Leu238= | |
| NM_001374839.1:c.712C>T | NP_001361768.1:p.Leu238= | |
| NM_017767.3:c.919C>T | NP_060237.3:p.Leu307= | |
| NM_130849.4:c.994C>T MANE Select | NP_570901.3:p.Leu332= |