Linked Data
ClinVar Variation Id:
177947
ClinVar RCV Id:
RCV000686194
dbSNP Id:
rs727504417
gnomAD v4:
X-70030493-C-T
PubMed:
PMID:11279189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70030493C>T , CM000685.2:g.70030493C>T | GRCh38 |
| NC_000023.10:g.69250343C>T , CM000685.1:g.69250343C>T | GRCh37 |
| NC_000023.9:g.69167068C>T | NCBI36 |
| NG_009809.1:g.419433C>T | |
| NG_009809.2:g.419427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.766C>T MANE Select | ENSP00000363680.4:p.Gln256Ter | |
| ENST00000374552.8:c.766C>T | ENSP00000363680.4:p.Gln256Ter | |
| ENST00000374553.6:c.766C>T | ENSP00000363681.2:p.Gln256Ter | |
| ENST00000503592.5:c.370C>T | ENSP00000423037.1:p.Gln124Ter | |
| ENST00000524573.5:c.766C>T | ENSP00000432585.1:p.Gln256Ter | |
| ENST00000616899.1:c.370C>T | ENSP00000481963.1:p.Gln124Ter | |
| NM_001005609.1:c.766C>T | NP_001005609.1:p.Gln256Ter | |
| NM_001005612.2:c.766C>T | NP_001005612.2:p.Gln256Ter | |
| NM_001399.4:c.766C>T | NP_001390.1:p.Gln256Ter | |
| XM_006724630.2:c.766C>T | XP_006724693.1:p.Gln256Ter | |
| XM_011530885.1:c.766C>T | XP_011529187.1:p.Gln256Ter | |
| XM_011530885.2:c.766C>T | XP_011529187.1:p.Gln256Ter | |
| XM_017029336.1:c.766C>T | XP_016884825.1:p.Gln256Ter | |
| NM_001399.5:c.766C>T MANE Select | NP_001390.1:p.Gln256Ter | |
| NM_001005609.2:c.766C>T | NP_001005609.1:p.Gln256Ter | |
| NM_001005612.3:c.766C>T | NP_001005612.2:p.Gln256Ter |