Linked Data
ClinVar Variation Id:
1600034
ClinVar RCV Id:
RCV002132101
dbSNP Id:
rs17368528
ExAC:
1:9324213 C / T
gnomAD v2:
1-9324213-C-T
gnomAD v3:
1-9264154-C-T
gnomAD v4:
1-9264154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9264154C>T , CM000663.2:g.9264154C>T | GRCh38 |
| NC_000001.10:g.9324213C>T , CM000663.1:g.9324213C>T | GRCh37 |
| NC_000001.9:g.9246800C>T | NCBI36 |
| NG_012218.1:g.34351C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377403.7:c.1661C>T MANE Select | ENSP00000366620.2:p.Pro554Leu | |
| ENST00000377403.6:c.1661C>T | ENSP00000366620.1:p.Pro554Leu | |
| ENST00000602477.1:c.1694C>T | ENSP00000473348.1:p.Pro565Leu | |
| NM_001282587.1:c.1694C>T | NP_001269516.1:p.Pro565Leu | |
| NM_004285.3:c.1661C>T | NP_004276.2:p.Pro554Leu | |
| XM_005263539.3:c.1694C>T | XP_005263596.1:p.Pro565Leu | |
| XM_005263540.3:c.1688C>T | XP_005263597.1:p.Pro563Leu | |
| XM_006711052.2:c.1661C>T | XP_006711115.1:p.Pro554Leu | |
| XM_011542446.1:c.1661C>T | XP_011540748.1:p.Pro554Leu | |
| XM_005263540.5:c.1688C>T | XP_005263597.1:p.Pro563Leu | |
| XM_006711052.4:c.1661C>T | XP_006711115.1:p.Pro554Leu | |
| XM_017002865.2:c.1661C>T | XP_016858354.1:p.Pro554Leu | |
| XM_017002866.2:c.593C>T | XP_016858355.1:p.Pro198Leu | |
| NM_001282587.2:c.1694C>T | NP_001269516.1:p.Pro565Leu | |
| NM_004285.4:c.1661C>T MANE Select | NP_004276.2:p.Pro554Leu |