Linked Data
ClinVar Variation Id:
434445
ClinVar RCV Id:
RCV000502507
dbSNP Id:
rs1555298342
gnomAD v4:
12-123743893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743893G>A , CM000674.2:g.123743893G>A | GRCh38 |
| NC_000012.11:g.124228440G>A , CM000674.1:g.124228440G>A | GRCh37 |
| NC_000012.10:g.122794393G>A | NCBI36 |
| NG_012743.1:g.36576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.1147G>A MANE Select | ENSP00000332247.2:p.Val383Met | |
| ENST00000540368.6:n.1178G>A | ||
| ENST00000674794.1:c.1235G>A | ||
| ENST00000675260.1:n.422G>A | ||
| ENST00000675344.1:c.*168G>A | ENSP00000501953.1:n.*168G>A | |
| ENST00000330342.7:c.1147G>A | ENSP00000332247.2:p.Val383Met | |
| ENST00000504192.2:c.757G>A | ENSP00000443441.1:p.Val253Met | |
| ENST00000536426.1:n.164G>A | ||
| ENST00000545059.5:n.3783G>A | ||
| NM_012463.3:c.1147G>A | NP_036595.2:p.Val383Met | |
| XM_005253563.1:c.1147G>A | XP_005253620.1:p.Val383Met | |
| XM_006719317.2:c.634G>A | XP_006719380.1:p.Val212Met | |
| XM_006719318.2:c.325G>A | XP_006719381.1:p.Val109Met | |
| XR_429088.1:n.1310G>A | ||
| XM_024448910.1:c.1147G>A | XP_024304678.1:p.Val383Met | |
| XM_024448911.1:c.634G>A | XP_024304679.1:p.Val212Met | |
| XM_024448912.1:c.325G>A | XP_024304680.1:p.Val109Met | |
| NM_012463.4:c.1147G>A MANE Select | NP_036595.2:p.Val383Met |