Linked Data
ClinVar Variation Id:
701508
ClinVar RCV Id:
RCV000870083
dbSNP Id:
rs749428493
ExAC:
12:52200154 G / A
gnomAD v2:
12-52200154-G-A
gnomAD v3:
12-51806370-G-A
gnomAD v4:
12-51806370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51806370G>A , CM000674.2:g.51806370G>A | GRCh38 |
| NC_000012.11:g.52200154G>A , CM000674.1:g.52200154G>A | GRCh37 |
| NC_000012.10:g.50486421G>A | NCBI36 |
| NG_021180.2:g.220135G>A | |
| NG_021180.3:g.221413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.4884G>A MANE Plus Clinical | ENSP00000346534.4:p.Leu1628= | |
| ENST00000627620.5:c.4884G>A MANE Select | ENSP00000487583.2:p.Leu1628= | |
| ENST00000636945.2:c.2948G>A | ||
| ENST00000662684.1:c.4884G>A | ENSP00000499636.1:p.Leu1628= | |
| ENST00000668547.1:c.4761G>A | ENSP00000499691.1:p.Leu1587= | |
| ENST00000354534.10:c.4884G>A | ENSP00000346534.4:p.Leu1628= | |
| ENST00000355133.7:c.4761G>A | ENSP00000347255.4:p.Leu1587= | |
| ENST00000545061.5:c.4761G>A | ENSP00000440360.1:p.Leu1587= | |
| ENST00000599343.5:c.4917G>A | ENSP00000476447.3:p.Leu1639= | |
| ENST00000627620.2:c.4884G>A | ENSP00000487583.1:p.Leu1628= | |
| NM_001177984.2:c.4761G>A | NP_001171455.1:p.Leu1587= | |
| NM_014191.3:c.4884G>A | NP_055006.1:p.Leu1628= | |
| XM_006719556.2:c.4884G>A | XP_006719619.1:p.Leu1628= | |
| XM_011538650.1:c.4884G>A | XP_011536952.1:p.Leu1628= | |
| XM_011538651.1:c.4884G>A | XP_011536953.1:p.Leu1628= | |
| NM_001330260.1:c.4884G>A | NP_001317189.1:p.Leu1628= | |
| XM_006719556.4:c.4884G>A | XP_006719619.1:p.Leu1628= | |
| XM_011538651.3:c.4884G>A | XP_011536953.1:p.Leu1628= | |
| XM_017019794.2:c.4884G>A | XP_016875283.1:p.Leu1628= | |
| XM_017019795.2:c.4761G>A | XP_016875284.1:p.Leu1587= | |
| NM_001330260.2:c.4884G>A MANE Select | NP_001317189.1:p.Leu1628= | |
| NM_001369788.1:c.4761G>A | NP_001356717.1:p.Leu1587= | |
| NM_014191.4:c.4884G>A MANE Plus Clinical | NP_055006.1:p.Leu1628= | |
| NM_001177984.3:c.4761G>A | NP_001171455.1:p.Leu1587= |