Linked Data
dbSNP Id:
rs1351931704
gnomAD v2:
1-185962324-C-T
gnomAD v3:
1-185993192-C-T
gnomAD v4:
1-185993192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185993192C>T , CM000663.2:g.185993192C>T | GRCh38 |
| NC_000001.10:g.185962324C>T , CM000663.1:g.185962324C>T | GRCh37 |
| NC_000001.9:g.184228947C>T | NCBI36 |
| NG_011841.1:g.263642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.3388C>T MANE Select | ENSP00000271588.4:p.Leu1130Phe | |
| ENST00000271588.8:c.3388C>T | ENSP00000271588.4:p.Leu1130Phe | |
| ENST00000485744.5:n.1639C>T | ||
| NM_031935.2:c.3388C>T | NP_114141.2:p.Leu1130Phe | |
| XM_011510037.1:c.3388C>T | XP_011508339.1:p.Leu1130Phe | |
| XM_011510038.1:c.3388C>T | XP_011508340.1:p.Leu1130Phe | |
| XM_011510039.1:c.3388C>T | XP_011508341.1:p.Leu1130Phe | |
| XM_011510040.1:c.3388C>T | XP_011508342.1:p.Leu1130Phe | |
| XM_011510041.1:c.3388C>T | XP_011508343.1:p.Leu1130Phe | |
| XM_011510038.3:c.3388C>T | XP_011508340.1:p.Leu1130Phe | |
| XM_011510041.3:c.3388C>T | XP_011508343.1:p.Leu1130Phe | |
| XM_017002437.1:c.1411C>T | XP_016857926.1:p.Leu471Phe | |
| XM_024450118.1:c.3388C>T | XP_024305886.1:p.Leu1130Phe | |
| NM_031935.3:c.3388C>T MANE Select | NP_114141.2:p.Leu1130Phe |