Linked Data
ClinVar Variation Id:
402137
ClinVar RCV Id:
RCV000454288
dbSNP Id:
rs1060499736
gnomAD v4:
X-129523364-G-A
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129523364G>A , CM000685.2:g.129523364G>A | GRCh38 |
| NC_000023.10:g.128657341G>A , CM000685.1:g.128657341G>A | GRCh37 |
| NC_000023.9:g.128485022G>A | NCBI36 |
| NG_012526.1:g.5120C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371121.5:c.7C>T MANE Select | ENSP00000360162.4:p.Gln3Ter | |
| ENST00000371121.4:c.7C>T | ENSP00000360162.4:p.Gln3Ter | |
| ENST00000371122.8:c.7C>T | ENSP00000360163.4:p.Gln3Ter | |
| ENST00000371123.5:c.7C>T | ENSP00000360164.2:p.Gln3Ter | |
| ENST00000617310.4:n.101C>T | ||
| NM_001282874.1:c.7C>T | NP_001269803.1:p.Gln3Ter | |
| NM_001282875.1:c.7C>T | NP_001269804.1:p.Gln3Ter | |
| NM_003069.4:c.7C>T | NP_003060.2:p.Gln3Ter | |
| XM_005262461.1:c.7C>T | XP_005262518.1:p.Gln3Ter | |
| XM_005262462.1:c.7C>T | XP_005262519.1:p.Gln3Ter | |
| XM_006724782.1:c.7C>T | XP_006724845.1:p.Gln3Ter | |
| XM_005262461.2:c.7C>T | XP_005262518.1:p.Gln3Ter | |
| XM_005262462.2:c.7C>T | XP_005262519.1:p.Gln3Ter | |
| XM_006724782.2:c.7C>T | XP_006724845.1:p.Gln3Ter | |
| XM_017029750.1:c.7C>T | XP_016885239.1:p.Gln3Ter | |
| XM_017029751.1:c.7C>T | XP_016885240.1:p.Gln3Ter | |
| NM_001282874.2:c.7C>T MANE Select | NP_001269803.1:p.Gln3Ter | |
| NM_001282875.2:c.7C>T | NP_001269804.1:p.Gln3Ter | |
| NM_003069.5:c.7C>T | NP_003060.2:p.Gln3Ter | |
| NM_001378261.1:c.7C>T | NP_001365190.1:p.Gln3Ter | |
| NM_001378262.1:c.7C>T | NP_001365191.1:p.Gln3Ter | |
| NM_001378263.1:c.7C>T | NP_001365192.1:p.Gln3Ter | |
| NM_001378264.1:c.7C>T | NP_001365193.1:p.Gln3Ter |