Linked Data
ClinVar Variation Id:
2599303
ClinVar RCV Id:
RCV003363766
dbSNP Id:
rs764202775
ExAC:
12:124228858 C / A
gnomAD v2:
12-124228858-C-A
gnomAD v3:
12-123744311-C-A
gnomAD v4:
12-123744311-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744311C>A , CM000674.2:g.123744311C>A | GRCh38 |
| NC_000012.11:g.124228858C>A , CM000674.1:g.124228858C>A | GRCh37 |
| NC_000012.10:g.122794811C>A | NCBI36 |
| NG_012743.1:g.36994C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1300C>A MANE Select | ENSP00000332247.2:p.His434Asn | |
| ENST00000540368.6:n.1331C>A | ||
| ENST00000674794.1:c.1388C>A | ||
| ENST00000675260.1:n.575C>A | ||
| ENST00000675344.1:c.*321C>A | ENSP00000501953.1:n.*321C>A | |
| ENST00000330342.7:c.1300C>A | ENSP00000332247.2:p.His434Asn | |
| ENST00000504192.2:c.910C>A | ENSP00000443441.1:p.His304Asn | |
| ENST00000536426.1:n.317C>A | ||
| ENST00000545059.5:n.3936C>A | ||
| NM_012463.3:c.1300C>A | NP_036595.2:p.His434Asn | |
| XM_005253563.1:c.1300C>A | XP_005253620.1:p.His434Asn | |
| XM_006719317.2:c.787C>A | XP_006719380.1:p.His263Asn | |
| XM_006719318.2:c.478C>A | XP_006719381.1:p.His160Asn | |
| XR_429088.1:n.1463C>A | ||
| XM_024448910.1:c.1300C>A | XP_024304678.1:p.His434Asn | |
| XM_024448911.1:c.787C>A | XP_024304679.1:p.His263Asn | |
| XM_024448912.1:c.478C>A | XP_024304680.1:p.His160Asn | |
| NM_012463.4:c.1300C>A MANE Select | NP_036595.2:p.His434Asn |