Linked Data
ClinVar Variation Id:
328339
dbSNP Id:
rs144570086
gnomAD v2:
19-1395406-C-A
gnomAD v4:
19-1395407-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1395407C>A , CM000681.2:g.1395407C>A | GRCh38 |
| NC_000019.9:g.1395406C>A , CM000681.1:g.1395406C>A | GRCh37 |
| NC_000019.8:g.1346406C>A | NCBI36 |
| NG_008283.1:g.16524C>A | |
| NG_009785.1:g.11147G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.561C>A MANE Select | ENSP00000233627.9:p.Ala187= | |
| ENST00000233627.13:c.561C>A | ENSP00000233627.9:p.Ala187= | |
| ENST00000313408.11:c.*2000C>A | ENSP00000364262.5:n.*2000C>A | |
| ENST00000534853.5:c.*355C>A | ENSP00000442822.1:n.*355C>A | |
| ENST00000535382.1:n.2873C>A | ||
| ENST00000539480.5:c.*985C>A | ENSP00000443273.1:n.*985C>A | |
| ENST00000540530.5:n.1525C>A | ||
| ENST00000543289.5:n.3179C>A | ||
| ENST00000545446.5:n.2912C>A | ||
| ENST00000546172.7:c.*557C>A | ENSP00000467094.1:n.*557C>A | |
| ENST00000591358.1:n.3566C>A | ||
| ENST00000618074.4:c.564C>A | ENSP00000477895.1:p.Ala188= | |
| ENST00000620479.4:c.564C>A | ENSP00000480984.1:p.Ala188= | |
| ENST00000622587.4:n.625C>A | ||
| NM_024407.4:c.561C>A | NP_077718.3:p.Ala187= | |
| NM_001363602.1:c.*985C>A | NP_001350531.1:n.*985C>A | |
| XM_024451499.1:c.582C>A | XP_024307267.1:p.Ala194= | |
| NM_024407.5:c.561C>A MANE Select | NP_077718.3:p.Ala187= | |
| NM_001363602.2:c.*985C>A | NP_001350531.1:n.*985C>A |