Linked Data
ClinVar Variation Id:
1122
ClinVar RCV Id:
RCV000001181
dbSNP Id:
rs121918332
gnomAD v4:
3-39394574-A-T
PubMed:
PMID:19412178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394574A>T , CM000665.2:g.39394574A>T | GRCh38 |
| NC_000003.11:g.39436065A>T , CM000665.1:g.39436065A>T | GRCh37 |
| NC_000003.10:g.39411069A>T | NCBI36 |
| NG_016931.1:g.16251A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642683.1:c.742A>T | ENSP00000495376.1:p.Lys248Ter | |
| ENST00000643672.1:c.739A>T | ENSP00000494532.1:p.Lys247Ter | |
| ENST00000645280.1:c.736A>T | ENSP00000496690.1:p.Lys246Ter | |
| ENST00000648579.1:c.*87A>T | ENSP00000497638.1:n.*87A>T | |
| ENST00000650617.1:c.790A>T MANE Select | ENSP00000497532.1:p.Lys264Ter | |
| ENST00000273158.8:c.790A>T | ENSP00000273158.3:p.Lys264Ter | |
| NM_017875.2:c.790A>T | NP_060345.2:p.Lys264Ter | |
| XM_006713214.1:c.778A>T | XP_006713277.1:p.Lys260Ter | |
| XM_011533869.1:c.772A>T | XP_011532171.1:p.Lys258Ter | |
| XM_011533870.1:c.739A>T | XP_011532172.1:p.Lys247Ter | |
| XM_011533871.1:c.610A>T | XP_011532173.1:p.Lys204Ter | |
| NM_001354798.1:c.626-1824A>T | NP_001341727.1:n.626-1824A>T | |
| NM_017875.4:c.790A>T MANE Select | NP_060345.2:p.Lys264Ter | |
| XM_006713214.2:c.778A>T | XP_006713277.1:p.Lys260Ter | |
| XM_011533869.2:c.772A>T | XP_011532171.1:p.Lys258Ter | |
| XM_024453611.1:c.736A>T | XP_024309379.1:p.Lys246Ter | |
| NM_001354798.2:c.626-1824A>T | NP_001341727.1:n.626-1824A>T |