Linked Data
ClinVar Variation Id:
2155408
ClinVar RCV Id:
RCV003072319
dbSNP Id:
rs374138305
ExAC:
X:107924166 C / T
gnomAD v2:
X-107924166-C-T
gnomAD v3:
X-108680936-C-T
gnomAD v4:
X-108680936-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108680936C>T , CM000685.2:g.108680936C>T | GRCh38 |
| NC_000023.10:g.107924166C>T , CM000685.1:g.107924166C>T | GRCh37 |
| NC_000023.9:g.107810822C>T | NCBI36 |
| NG_011977.1:g.246013C>T | |
| NG_011977.2:g.246013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4067C>T MANE Select | ENSP00000331902.7:p.Pro1356Leu | |
| ENST00000361603.7:c.4049C>T | ENSP00000354505.2:p.Pro1350Leu | |
| ENST00000510690.2:n.561C>T | ||
| ENST00000328300.10:c.4067C>T | ENSP00000331902.6:p.Pro1356Leu | |
| ENST00000361603.6:c.4049C>T | ENSP00000354505.2:p.Pro1350Leu | |
| ENST00000489230.1:n.470C>T | ||
| NM_000495.4:c.4049C>T | NP_000486.1:p.Pro1350Leu | |
| NM_033380.2:c.4067C>T | NP_203699.1:p.Pro1356Leu | |
| XM_005262070.2:c.4058C>T | XP_005262127.1:p.Pro1353Leu | |
| XM_006724616.2:c.4067C>T | XP_006724679.1:p.Pro1356Leu | |
| XM_011530849.1:c.3743C>T | XP_011529151.1:p.Pro1248Leu | |
| XM_011530851.1:c.1640C>T | XP_011529153.1:p.Pro547Leu | |
| XM_011530849.2:c.4082C>T | XP_011529151.2:p.Pro1361Leu | |
| XM_017029259.2:c.4073C>T | XP_016884748.1:p.Pro1358Leu | |
| XM_017029260.1:c.4064C>T | XP_016884749.1:p.Pro1355Leu | |
| XM_017029263.2:c.2402C>T | XP_016884752.1:p.Pro801Leu | |
| NM_000495.5:c.4049C>T | NP_000486.1:p.Pro1350Leu | |
| NM_033380.3:c.4067C>T MANE Select | NP_203699.1:p.Pro1356Leu |