Linked Data
ClinVar Variation Id:
139335
ClinVar RCV Id:
RCV000128297
RCV000200266
RCV000213018
RCV001354164
RCV001528533
RCV001798431
RCV003945142
dbSNP Id:
rs372378119
ExAC:
19:1221264 T / C
gnomAD v2:
19-1221264-T-C
gnomAD v3:
19-1221265-T-C
gnomAD v4:
19-1221265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221265T>C , CM000681.2:g.1221265T>C | GRCh38 |
| NC_000019.9:g.1221264T>C , CM000681.1:g.1221264T>C | GRCh37 |
| NC_000019.8:g.1172264T>C | NCBI36 |
| NG_007460.2:g.36859T>C , LRG_319:g.36859T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.787T>C | ENSP00000490268.2:p.Leu263= | |
| ENST00000585748.3:c.415T>C | ENSP00000477641.2:p.Leu139= | |
| ENST00000585851.2:c.613T>C | ENSP00000467912.2:p.Leu205= | |
| ENST00000326873.12:c.787T>C MANE Select | ENSP00000324856.6:p.Leu263= | |
| ENST00000652231.1:c.787T>C | ENSP00000498804.1:p.Leu263= | |
| ENST00000326873.11:c.787T>C | ENSP00000324856.6:p.Leu263= | |
| ENST00000586243.5:c.787T>C | ENSP00000467240.2:p.Leu263= | |
| ENST00000586358.5:n.685T>C | ||
| ENST00000589152.5:n.877T>C | ||
| ENST00000591133.2:n.758T>C | ||
| NM_000455.4:c.787T>C , LRG_319t1:c.787T>C | NP_000446.1:p.Leu263= | |
| XM_005259617.1:c.787T>C | XP_005259674.1:p.Leu263= | |
| XM_005259618.3:c.787T>C | XP_005259675.1:p.Leu263= | |
| XM_011528209.1:c.565T>C | XP_011526511.1:p.Leu189= | |
| XR_936204.1:n.1412T>C | ||
| XM_005259617.3:c.787T>C | XP_005259674.1:p.Leu263= | |
| XM_011528209.2:c.565T>C | XP_011526511.1:p.Leu189= | |
| XR_001753738.2:n.1412T>C | ||
| XR_001753739.1:n.1412T>C | ||
| XR_001753740.2:n.1412T>C | ||
| NM_000455.5:c.787T>C MANE Select | NP_000446.1:p.Leu263= |