Linked Data
ClinVar Variation Id:
3056698
ClinVar RCV Id:
RCV003979304
dbSNP Id:
rs2003783
ExAC:
19:51361472 C / A
gnomAD v2:
19-51361472-C-A
gnomAD v3:
19-50858216-C-A
gnomAD v4:
19-50858216-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50858216C>A , CM000681.2:g.50858216C>A | GRCh38 |
| NC_000019.9:g.51361472C>A , CM000681.1:g.51361472C>A | GRCh37 |
| NC_000019.8:g.56053284C>A | NCBI36 |
| NG_011653.1:g.8302C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326003.7:c.394C>A MANE Select | ENSP00000314151.1:p.Leu132Ile | |
| ENST00000326003.6:c.394C>A | ENSP00000314151.1:p.Leu132Ile | |
| ENST00000360617.7:c.394C>A | ENSP00000353829.2:p.Leu132Ile | |
| ENST00000422986.6:c.*50C>A | ENSP00000393628.2:n.*50C>A | |
| ENST00000593997.5:c.394C>A | ENSP00000472907.1:p.Leu132Ile | |
| ENST00000595392.5:c.352+42C>A | ENSP00000468912.1:n.352+42C>A | |
| ENST00000595952.5:c.265C>A | ENSP00000471155.1:p.Leu89Ile | |
| ENST00000596185.5:c.*502C>A | ENSP00000471648.1:n.*502C>A | |
| ENST00000596333.1:n.429C>A | ||
| ENST00000597286.5:c.283C>A | ENSP00000470523.1:p.Leu95Ile | |
| ENST00000597483.5:c.265C>A | ENSP00000472411.1:p.Leu89Ile | |
| ENST00000598145.1:c.378C>A | ||
| ENST00000601349.5:n.1673C>A | ||
| ENST00000601503.5:c.337C>A | ENSP00000472213.1:p.Leu113Ile | |
| ENST00000601812.1:n.826C>A | ||
| ENST00000617027.4:c.353+41C>A | ENSP00000483513.1:n.353+41C>A | |
| NM_001030047.1:c.394C>A | NP_001025218.1:p.Leu132Ile | |
| NM_001030048.1:c.265C>A | NP_001025219.1:p.Leu89Ile | |
| NM_001648.2:c.394C>A MANE Select | NP_001639.1:p.Leu132Ile | |
| XM_011526923.1:c.394C>A | XP_011525225.1:p.Leu132Ile | |
| XM_011526924.1:c.394C>A | XP_011525226.1:p.Leu132Ile | |
| XR_935817.1:n.429C>A |