Linked Data
ClinVar Variation Id:
3061618
ClinVar RCV Id:
RCV003983626
dbSNP Id:
rs1284470006
gnomAD v4:
12-123744292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744292G>A , CM000674.2:g.123744292G>A | GRCh38 |
| NC_000012.11:g.124228839G>A , CM000674.1:g.124228839G>A | GRCh37 |
| NC_000012.10:g.122794792G>A | NCBI36 |
| NG_012743.1:g.36975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1281G>A MANE Select | ENSP00000332247.2:p.Leu427= | |
| ENST00000540368.6:n.1312G>A | ||
| ENST00000674794.1:c.1369G>A | ||
| ENST00000675260.1:n.556G>A | ||
| ENST00000675344.1:c.*302G>A | ENSP00000501953.1:n.*302G>A | |
| ENST00000330342.7:c.1281G>A | ENSP00000332247.2:p.Leu427= | |
| ENST00000504192.2:c.891G>A | ENSP00000443441.1:p.Leu297= | |
| ENST00000536426.1:n.298G>A | ||
| ENST00000545059.5:n.3917G>A | ||
| NM_012463.3:c.1281G>A | NP_036595.2:p.Leu427= | |
| XM_005253563.1:c.1281G>A | XP_005253620.1:p.Leu427= | |
| XM_006719317.2:c.768G>A | XP_006719380.1:p.Leu256= | |
| XM_006719318.2:c.459G>A | XP_006719381.1:p.Leu153= | |
| XR_429088.1:n.1444G>A | ||
| XM_024448910.1:c.1281G>A | XP_024304678.1:p.Leu427= | |
| XM_024448911.1:c.768G>A | XP_024304679.1:p.Leu256= | |
| XM_024448912.1:c.459G>A | XP_024304680.1:p.Leu153= | |
| NM_012463.4:c.1281G>A MANE Select | NP_036595.2:p.Leu427= |