Linked Data
ClinVar Variation Id:
587188
dbSNP Id:
rs143020337
ExAC:
X:107924171 C / A
gnomAD v2:
X-107924171-C-A
gnomAD v3:
X-108680941-C-A
gnomAD v4:
X-108680941-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108680941C>A , CM000685.2:g.108680941C>A | GRCh38 |
| NC_000023.10:g.107924171C>A , CM000685.1:g.107924171C>A | GRCh37 |
| NC_000023.9:g.107810827C>A | NCBI36 |
| NG_011977.1:g.246018C>A | |
| NG_011977.2:g.246018C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4072C>A MANE Select | ENSP00000331902.7:p.Leu1358Ile | |
| ENST00000361603.7:c.4054C>A | ENSP00000354505.2:p.Leu1352Ile | |
| ENST00000510690.2:n.566C>A | ||
| ENST00000328300.10:c.4072C>A | ENSP00000331902.6:p.Leu1358Ile | |
| ENST00000361603.6:c.4054C>A | ENSP00000354505.2:p.Leu1352Ile | |
| ENST00000489230.1:n.475C>A | ||
| NM_000495.4:c.4054C>A | NP_000486.1:p.Leu1352Ile | |
| NM_033380.2:c.4072C>A | NP_203699.1:p.Leu1358Ile | |
| XM_005262070.2:c.4063C>A | XP_005262127.1:p.Leu1355Ile | |
| XM_006724616.2:c.4072C>A | XP_006724679.1:p.Leu1358Ile | |
| XM_011530849.1:c.3748C>A | XP_011529151.1:p.Leu1250Ile | |
| XM_011530851.1:c.1645C>A | XP_011529153.1:p.Leu549Ile | |
| XM_011530849.2:c.4087C>A | XP_011529151.2:p.Leu1363Ile | |
| XM_017029259.2:c.4078C>A | XP_016884748.1:p.Leu1360Ile | |
| XM_017029260.1:c.4069C>A | XP_016884749.1:p.Leu1357Ile | |
| XM_017029263.2:c.2407C>A | XP_016884752.1:p.Leu803Ile | |
| NM_000495.5:c.4054C>A | NP_000486.1:p.Leu1352Ile | |
| NM_033380.3:c.4072C>A MANE Select | NP_203699.1:p.Leu1358Ile |