Linked Data
ClinVar Variation Id:
422510
ClinVar RCV Id:
RCV000482787
dbSNP Id:
rs1064795825
gnomAD v4:
6-142772845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142772845C>T , CM000668.2:g.142772845C>T | GRCh38 |
| NC_000006.11:g.143093982C>T , CM000668.1:g.143093982C>T | GRCh37 |
| NC_000006.10:g.143135675C>T | NCBI36 |
| NG_047004.1:g.177357G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474532.2:c.1894G>A | ENSP00000515553.1:p.Asp632Asn | |
| ENST00000703916.1:c.1-4309G>A | ENSP00000515550.1:n.1-4309G>A | |
| ENST00000703917.1:c.-1+3302G>A | ENSP00000515551.1:n.-1+3302G>A | |
| ENST00000703918.1:c.1894G>A | ENSP00000515552.1:p.Asp632Asn | |
| ENST00000703919.1:c.1894G>A | ENSP00000515554.1:p.Asp632Asn | |
| ENST00000012134.7:c.1894G>A | ENSP00000012134.2:p.Asp632Asn | |
| ENST00000367603.8:c.1894G>A MANE Select | ENSP00000356575.2:p.Asp632Asn | |
| ENST00000367604.6:c.1894G>A | ENSP00000356576.1:p.Asp632Asn | |
| ENST00000012134.6:c.1894G>A | ENSP00000012134.2:p.Asp632Asn | |
| ENST00000367603.6:c.1894G>A | ENSP00000356575.2:p.Asp632Asn | |
| ENST00000367604.5:c.1894G>A | ENSP00000356576.1:p.Asp632Asn | |
| NM_006734.3:c.1894G>A | NP_006725.3:p.Asp632Asn | |
| XM_017010805.1:c.1894G>A | XP_016866294.1:p.Asp632Asn | |
| XM_024446416.1:c.1894G>A | XP_024302184.1:p.Asp632Asn | |
| XM_024446417.1:c.1894G>A | XP_024302185.1:p.Asp632Asn | |
| XM_024446418.1:c.1894G>A | XP_024302186.1:p.Asp632Asn | |
| XM_024446419.1:c.1894G>A | XP_024302187.1:p.Asp632Asn | |
| NM_006734.4:c.1894G>A MANE Select | NP_006725.3:p.Asp632Asn |