Linked Data
ClinVar Variation Id:
1963696
ClinVar RCV Id:
RCV002716089
dbSNP Id:
rs754410363
ExAC:
1:153792109 G / A
gnomAD v2:
1-153792109-G-A
gnomAD v3:
1-153819633-G-A
gnomAD v4:
1-153819633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153819633G>A , CM000663.2:g.153819633G>A | GRCh38 |
| NC_000001.10:g.153792109G>A , CM000663.1:g.153792109G>A | GRCh37 |
| NC_000001.9:g.152058733G>A | NCBI36 |
| NG_050988.1:g.108343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703630.1:c.15C>T | ENSP00000515408.1:p.Leu5= | |
| ENST00000368655.5:c.438C>T MANE Select | ENSP00000357644.4:p.Leu146= | |
| ENST00000368655.4:c.438C>T | ENSP00000357644.4:p.Leu146= | |
| ENST00000634401.1:c.438C>T | ENSP00000489313.1:p.Leu146= | |
| ENST00000634408.1:c.438C>T | ENSP00000489595.1:p.Leu146= | |
| ENST00000634544.1:c.438C>T | ENSP00000489184.1:p.Leu146= | |
| ENST00000634791.1:c.438C>T | ENSP00000489566.1:p.Leu146= | |
| NM_020699.2:c.438C>T | NP_065750.1:p.Leu146= | |
| XM_005245364.3:c.438C>T | XP_005245421.1:p.Leu146= | |
| XM_006711469.2:c.438C>T | XP_006711532.1:p.Leu146= | |
| XM_011509808.1:c.438C>T | XP_011508110.1:p.Leu146= | |
| NM_020699.3:c.438C>T | NP_065750.1:p.Leu146= | |
| XM_005245364.4:c.438C>T | XP_005245421.1:p.Leu146= | |
| XM_024448621.1:c.438C>T | XP_024304389.1:p.Leu146= | |
| NM_020699.4:c.438C>T MANE Select | NP_065750.1:p.Leu146= |