Linked Data
ClinVar Variation Id:
406555
ClinVar RCV Id:
RCV000475518
dbSNP Id:
rs1060501186
gnomAD v4:
12-32822594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822594G>A , CM000674.2:g.32822594G>A | GRCh38 |
| NC_000012.11:g.32975528G>A , CM000674.1:g.32975528G>A | GRCh37 |
| NC_000012.10:g.32866795G>A | NCBI36 |
| NG_009000.1:g.79253C>T , LRG_398:g.79253C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700555.2:n.224C>T | ||
| ENST00000700559.2:c.1712C>T | ENSP00000515065.2:p.Ser571Phe | |
| ENST00000700563.2:c.1712C>T | ENSP00000515066.2:p.Ser571Phe | |
| ENST00000546498.2:n.399C>T | ||
| ENST00000700555.1:c.152C>T | ENSP00000515062.1:p.Ser51Phe | |
| ENST00000700556.1:c.183C>T | ||
| ENST00000700559.1:c.927C>T | ||
| ENST00000700560.1:n.927C>T | ||
| ENST00000700561.1:n.1053C>T | ||
| ENST00000700563.1:c.1666C>T | ||
| ENST00000700564.1:n.1716C>T | ||
| ENST00000070846.11:c.1844C>T | ENSP00000070846.6:p.Ser615Phe | |
| ENST00000340811.9:c.1712C>T MANE Select | ENSP00000342800.5:p.Ser571Phe | |
| ENST00000070846.10:c.1844C>T | ENSP00000070846.6:p.Ser615Phe | |
| ENST00000340811.8:c.1712C>T | ENSP00000342800.4:p.Ser571Phe | |
| ENST00000546498.1:n.399C>T | ||
| ENST00000552612.5:n.133C>T | ||
| ENST00000613243.1:c.1844C>T | ENSP00000478295.1:p.Ser615Phe | |
| NM_001005242.2:c.1712C>T | NP_001005242.2:p.Ser571Phe | |
| NM_004572.3:c.1844C>T , LRG_398t1:c.1844C>T | NP_004563.2:p.Ser615Phe | |
| NM_001005242.3:c.1712C>T MANE Select | NP_001005242.2:p.Ser571Phe | |
| NM_004572.4:c.1844C>T | NP_004563.2:p.Ser615Phe |